Exon mutation missense. Medical search. Frequent questions

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Anatomy13

Cell Line COS Cells Cells, Cultured X Chromosome HeLa Cells HEK293 Cells Fibroblasts Tumor Cells, Cultured Cell Line, Tumor CHO Cells Cell Nucleus Chromosomes, Human, X Chromosomes, Human, Pair 17

Organisms11

Escherichia coli Saccharomyces cerevisiae Cercopithecus aethiops Mice, Mutant Strains Cricetinae Drosophila melanogaster Mice, Transgenic Mice, Inbred C57BL Drosophila Caenorhabditis elegans Zebrafish

Diseases32

Syndrome Genetic Predisposition to Disease Genetic Diseases, X-Linked Abnormalities, Multiple Retinitis Pigmentosa Eye Abnormalities Osteochondrodysplasias Hearing Loss, Sensorineural Deafness Chromosome Deletion Mental Retardation, X-Linked Intellectual Disability Ectodermal Dysplasia Breast Neoplasms Corneal Dystrophies, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Genetic Diseases, Inborn Craniofacial Abnormalities Neoplastic Syndromes, Hereditary Disease Models, Animal Cataract Eye Diseases, Hereditary Facies Microphthalmos Charcot-Marie-Tooth Disease Muscular Dystrophies Ovarian Neoplasms Metabolism, Inborn Errors Cardiomyopathy, Hypertrophic Colorectal Neoplasms Cerebellar Ataxia Hearing Loss

Chemicals and Drugs64

Codon, Nonsense DNA Primers Codon RNA Splice Sites DNA RNA, Messenger DNA-Binding Proteins Transcription Factors Mutant Proteins Membrane Proteins Nuclear Proteins DNA, Complementary Carrier Proteins DNA, Neoplasm Eye Proteins Proteins Bacterial Proteins Recombinant Proteins Protein Isoforms DNA, Mitochondrial Proto-Oncogene Proteins B-raf Ethylnitrosourea Proto-Oncogene Proteins Recombinant Fusion Proteins Tumor Suppressor Protein p53 RNA Precursors Repressor Proteins Codon, Terminator Nerve Tissue Proteins Saccharomyces cerevisiae Proteins Tumor Suppressor Proteins BRCA2 Protein Genetic Markers Drosophila Proteins Mutagens Neoplasm Proteins BRCA1 Protein Homeodomain Proteins Trans-Activators Fungal Proteins Glycine Arginine MutS Homolog 2 Protein RNA Adaptor Proteins, Signal Transducing DNA Transposable Elements Cytoskeletal Proteins Protein-Serine-Threonine Kinases Escherichia coli Proteins ras Proteins Adenosine Triphosphatases Oligonucleotide Probes Ethyl Methanesulfonate Oligodeoxyribonucleotides Sodium Channels DNA, Bacterial Cystic Fibrosis Transmembrane Conductance Regulator Alanine Dystrophin Membrane Transport Proteins Cysteine Cell Cycle Proteins Serine NAV1.5 Voltage-Gated Sodium Channel

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree DNA Mutational Analysis Polymerase Chain Reaction Amino Acid Substitution Sequence Analysis, DNA Mutagenesis, Site-Directed Chromosome Mapping Genetic Testing Cloning, Molecular Sequence Alignment Models, Molecular Transfection Models, Genetic Genetic Complementation Test Heterozygote Detection Restriction Mapping Reverse Transcriptase Polymerase Chain Reaction Mutagenesis, Insertional Genetic Association Studies Blotting, Southern Blotting, Western Crosses, Genetic Immunohistochemistry Case-Control Studies Disease Models, Animal Models, Biological Facies Blotting, Northern Cohort Studies

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes110

Exons Mutation, Missense Point Mutation Mutation Frameshift Mutation Base Sequence Germ-Line Mutation Amino Acid Sequence Heterozygote Polymorphism, Single-Stranded Conformational Amino Acid Substitution Alleles Codon, Nonsense Introns Homozygote Mutation Rate Alternative Splicing Phenotype Genotype Genes, Recessive RNA Splicing Sequence Deletion Genes, Dominant Mutagenesis Protein Structure, Tertiary Sequence Homology, Amino Acid Codon RNA Splice Sites Consanguinity Gene Deletion Genetic Linkage Suppression, Genetic Genetic Predisposition to Disease Polymorphism, Genetic Genes, p53 Binding Sites Transcription, Genetic Transfection Genetic Variation Protein Binding Founder Effect Genes Promoter Regions, Genetic Gene Frequency Plasmids Polymorphism, Single Nucleotide Conserved Sequence Genes, BRCA1 Mutagenesis, Insertional Microsatellite Repeats Protein Conformation Evolution, Molecular Genes, Lethal Gene Expression Sequence Homology, Nucleic Acid Gene Expression Regulation Structure-Activity Relationship Exome Penetrance Signal Transduction Recombination, Genetic Genetic Heterogeneity Genes, Bacterial Kinetics X Chromosome Genes, Suppressor Protein Structure, Secondary Genes, BRCA2 Codon, Terminator Polymorphism, Restriction Fragment Length INDEL Mutation Loss of Heterozygosity Temperature Genetic Markers Selection, Genetic Genes, Fungal DNA Repair Protein Transport Chromosome Deletion Drug Resistance, Viral Amino Acid Motifs Open Reading Frames DNA Transposable Elements Phylogeny Mosaicism Phosphorylation Genes, Tumor Suppressor Nucleic Acid Conformation Protein Stability Protein Biosynthesis Protein Folding Haplotypes Species Specificity Genes, APC Chromosomes, Human, X Repetitive Sequences, Nucleic Acid Chromosomes, Human, Pair 17 Gene Expression Regulation, Developmental Genes, Reporter Drug Resistance, Microbial Gene Dosage Genome, Human Biological Evolution Gene Expression Regulation, Bacterial Transcriptional Activation Base Pair Mismatch Ultraviolet Rays Gene Expression Regulation, Neoplastic Dimerization Drug Resistance

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups3

Asian Continental Ancestry Group Jews Infant, Newborn

Health Care7

Genetic Testing Family Health Age of Onset Temperature Case-Control Studies Cohort Studies Ultraviolet Rays

Geographicals1

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Exons Mutation, Missense Point Mutation Mutation Frameshift Mutation Pedigree Base Sequence Molecular Sequence Data DNA Mutational Analysis Germ-Line Mutation Amino Acid Sequence Heterozygote Polymorphism, Single-Stranded Conformational Polymerase Chain Reaction Amino Acid Substitution Alleles Codon, Nonsense Introns Homozygote Mutation Rate Alternative Splicing Sequence Analysis, DNA Phenotype Genotype Genes, Recessive RNA Splicing Sequence Deletion Mutagenesis, Site-Directed Genes, Dominant DNA Primers Mutagenesis Chromosome Mapping Genetic Testing Protein Structure, Tertiary Sequence Homology, Amino Acid Cloning, Molecular Codon Sequence Alignment RNA Splice Sites DNA Cell Line RNA, Messenger Syndrome Consanguinity Models, Molecular Gene Deletion DNA-Binding Proteins Genetic Linkage Suppression, Genetic Genetic Predisposition to Disease Polymorphism, Genetic Genes, p53 Binding Sites Transcription Factors Escherichia coli Mutant Proteins Transcription, Genetic Transfection Family Health Genetic Variation Membrane Proteins Protein Binding Founder Effect Nuclear Proteins Genes Promoter Regions, Genetic Models, Genetic DNA, Complementary Genetic Complementation Test Gene Frequency Carrier Proteins Heterozygote Detection Plasmids Polymorphism, Single Nucleotide COS Cells Conserved Sequence Genetic Diseases, X-Linked DNA, Neoplasm Restriction Mapping Saccharomyces cerevisiae Eye Proteins Abnormalities, Multiple Age of Onset Genes, BRCA1 Retinitis Pigmentosa Proteins Reverse Transcriptase Polymerase Chain Reaction Mutagenesis, Insertional Microsatellite Repeats Protein Conformation Bacterial Proteins Recombinant Proteins Evolution, Molecular Eye Abnormalities Genes, Lethal Gene Expression Sequence Homology, Nucleic Acid Protein Isoforms Gene Expression Regulation Asian Continental Ancestry Group

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