Found three mutations. Medical search. Frequent questions

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Anatomy11

Cell Line COS Cells Cells, Cultured X Chromosome HeLa Cells HEK293 Cells Fibroblasts Cell Line, Tumor CHO Cells Cell Nucleus Tumor Cells, Cultured

Organisms12

Escherichia coli Saccharomyces cerevisiae Mice, Mutant Strains Drosophila melanogaster Cercopithecus aethiops Mice, Transgenic Cricetinae Drosophila HIV-1 Mice, Inbred C57BL Caenorhabditis elegans Mice, Knockout

Diseases23

Syndrome Genetic Predisposition to Disease Genetic Diseases, X-Linked Retinitis Pigmentosa Abnormalities, Multiple Eye Abnormalities Chromosome Deletion Osteochondrodysplasias Deafness Disease Models, Animal Genetic Diseases, Inborn Mitochondrial Diseases Colorectal Neoplasms Hearing Loss, Sensorineural Breast Neoplasms Cell Transformation, Neoplastic Lung Neoplasms Ovarian Neoplasms Intellectual Disability Corneal Dystrophies, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Charcot-Marie-Tooth Disease Ectodermal Dysplasia

Chemicals and Drugs74

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

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes111

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

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care6

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

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

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Pedigree Mutation Rate Exons Base Sequence Heterozygote Amino Acid Substitution Polymerase Chain Reaction DNA Mutational Analysis Molecular Sequence Data Alleles Polymorphism, Single-Stranded Conformational Mutagenesis, Site-Directed Amino Acid Sequence Codon, Nonsense Genotype Homozygote Mutagenesis Sequence Analysis, DNA Genes, Recessive Sequence Deletion Genes, Dominant Genetic Testing Protein Structure, Tertiary DNA Primers Escherichia coli Suppression, Genetic Phenotype Models, Molecular Chromosome Mapping Codon Cell Line Binding Sites Sequence Homology, Amino Acid DNA-Binding Proteins Genetic Complementation Test Gene Deletion Founder Effect Transcription Factors Genes, p53 Syndrome Cloning, Molecular Protein Binding Sequence Alignment DNA Mutant Proteins Genetic Linkage Genetic Predisposition to Disease Saccharomyces cerevisiae Membrane Proteins Consanguinity Bacterial Proteins Plasmids Models, Genetic Transfection Genes, Lethal Nuclear Proteins Heterozygote Detection Exome Polymorphism, Genetic DNA, Mitochondrial Proto-Oncogene Proteins B-raf Genes, BRCA1 Mutagenesis, Insertional Family Health Transcription, Genetic Carrier Proteins Gene Frequency Promoter Regions, Genetic DNA, Neoplasm Genetic Variation Introns Genes, Bacterial Protein Conformation RNA, Messenger Recombination, Genetic Microsatellite Repeats Structure-Activity Relationship Drug Resistance, Viral Recombinant Proteins Genes Jews Signal Transduction Age of Onset Genes, Suppressor Kinetics COS Cells Eye Proteins Conserved Sequence Mutagens INDEL Mutation Crosses, Genetic Genetic Diseases, X-Linked Polymorphism, Restriction Fragment Length Proto-Oncogene Proteins Penetrance

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