Deleterious missense rad51d mutations. Medical search. Frequent questions

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Anatomy11

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

Organisms9

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

Diseases24

Hemochromatosis Dysostoses Iron Overload Osteochondrodysplasias Syndrome Cystic Fibrosis Genetic Predisposition to Disease Genetic Diseases, X-Linked Abnormalities, Multiple Retinitis Pigmentosa Eye Abnormalities Hearing Loss, Sensorineural Deafness Genomic Instability Breast Neoplasms Mental Retardation, X-Linked Intellectual Disability Chromosome Deletion Ectodermal Dysplasia Disease Models, Animal Craniofacial Abnormalities Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis

Chemicals and Drugs81

Rad52 DNA Repair and Recombination Protein Aminophenols Histocompatibility Antigens Class I Membrane Proteins UTP-Hexose-1-Phosphate Uridylyltransferase Mutant Proteins DNA-Binding Proteins Aspartic Acid DNA Primers Codon, Nonsense Saccharomyces cerevisiae Proteins Cystic Fibrosis Transmembrane Conductance Regulator DNA Repair Enzymes Glycine Fungal Proteins Recombinant Proteins HLA Antigens Cell Cycle Proteins Iron DNA Ferritins Nuclear Proteins Codon Recombinant Fusion Proteins DNA, Fungal Serine Transcription Factors DNA Helicases Checkpoint Kinase 2 Transferrin Adenosine Triphosphatases Guanylate Cyclase BRCA2 Protein Carrier Proteins Protein-Serine-Threonine Kinases Bacterial Proteins RNA, Messenger Ubiquitin-Conjugating Enzymes Methyl Methanesulfonate Schizosaccharomyces pombe Proteins Mutagens DNA, Neoplasm Eye Proteins BRCA1 Protein Proteins DNA, Mitochondrial DNA, Complementary Ethylnitrosourea Endodeoxyribonucleases Tumor Suppressor Proteins RNA Splice Sites DNA, Single-Stranded Tumor Suppressor Protein p53 Proto-Oncogene Proteins B-raf DNA Topoisomerases Exodeoxyribonucleases Endonucleases Repressor Proteins Proto-Oncogene Proteins Intracellular Signaling Peptides and Proteins Protein Kinases Ataxia Telangiectasia Mutated Proteins MutS Homolog 2 Protein ras Proteins Genetic Markers Adaptor Proteins, Signal Transducing Drosophila Proteins Escherichia coli Proteins Replication Protein A Homeodomain Proteins Arginine Trans-Activators Codon, Terminator Ubiquitin-Protein Ligases Neoplasm Proteins Ethyl Methanesulfonate DNA, Bacterial Ligases DNA Transposable Elements Nerve Tissue Proteins Alanine

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes108

Mutation, Missense Mutation Point Mutation Amino Acid Substitution Heterozygote Homozygote Frameshift Mutation Amino Acid Sequence Base Sequence Phenotype Germ-Line Mutation Alleles Genotype Exons Genes, Dominant Protein Structure, Tertiary Polymorphism, Single-Stranded Conformational DNA Repair Sequence Homology, Amino Acid Protein Binding Mutation Rate Codon, Nonsense Gene Frequency Recombination, Genetic Binding Sites Genes, Recessive Mutagenesis Sequence Deletion Phosphorylation Suppression, Genetic Kinetics Gene Deletion Protein Conformation Codon DNA Damage Genes, Fungal Consanguinity Genetic Predisposition to Disease Genetic Linkage Genes, p53 Plasmids Ultraviolet Rays Transfection Founder Effect Polymorphism, Genetic Genetic Variation Genes, Lethal Transcription, Genetic Introns Genes, BRCA1 DNA Replication Conserved Sequence Epistasis, Genetic Polymorphism, Single Nucleotide Signal Transduction Genes, Suppressor Mutagenesis, Insertional Microsatellite Repeats DNA Breaks, Double-Stranded Promoter Regions, Genetic RNA Splicing Structure-Activity Relationship Temperature RNA Splice Sites DNA, Single-Stranded Genes Genes, Bacterial Penetrance Gene Expression Polymorphism, Restriction Fragment Length Exome Protein Structure, Secondary Genetic Heterogeneity Gamma Rays Genes, BRCA2 Amino Acid Motifs Evolution, Molecular Protein Transport X Chromosome Gene Expression Regulation Loss of Heterozygosity INDEL Mutation Genetic Markers Gene Expression Regulation, Fungal Homologous Recombination Drug Resistance, Viral Cell Cycle Meiosis Protein Stability Chromosomes, Fungal Selection, Genetic Genomic Instability Codon, Terminator Time Factors Alternative Splicing Chromosome Deletion Gene Conversion Mitosis DNA Transposable Elements Diploidy Mosaicism Protein Folding Dimerization Base Pair Mismatch Nucleic Acid Conformation Drug Resistance, Microbial Protein Interaction Domains and Motifs Sequence Homology, Nucleic Acid

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Amino Acid Sequence Base Sequence

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care6

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

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

Mutation, Missense Mutation Point Mutation Hemochromatosis Amino Acid Substitution Rad52 DNA Repair and Recombination Protein Heterozygote Pedigree Homozygote DNA Mutational Analysis Frameshift Mutation Molecular Sequence Data Aminophenols Amino Acid Sequence Base Sequence Phenotype Germ-Line Mutation Alleles Dysostoses Mutagenesis, Site-Directed Histocompatibility Antigens Class I Membrane Proteins Genotype Iron Overload Exons Polymerase Chain Reaction UTP-Hexose-1-Phosphate Uridylyltransferase Genes, Dominant Genetic Testing Protein Structure, Tertiary Mutant Proteins DNA-Binding Proteins Polymorphism, Single-Stranded Conformational Aspartic Acid DNA Repair Osteochondrodysplasias Models, Molecular Sequence Homology, Amino Acid Protein Binding Saccharomyces cerevisiae Mutation Rate Cell Line DNA Primers Codon, Nonsense Saccharomyces cerevisiae Proteins Gene Frequency Recombination, Genetic Binding Sites Sequence Analysis, DNA Escherichia coli Genes, Recessive Mutagenesis Cystic Fibrosis Transmembrane Conductance Regulator DNA Repair Enzymes Sequence Deletion Phosphorylation Glycine Suppression, Genetic Fungal Proteins Recombinant Proteins Kinetics HLA Antigens Cell Cycle Proteins Iron Gene Deletion Protein Conformation DNA Ferritins Chromosome Mapping Nuclear Proteins Genetic Complementation Test Sequence Alignment Syndrome Codon Recombinant Fusion Proteins DNA, Fungal DNA Damage Genes, Fungal Cystic Fibrosis Consanguinity Genetic Predisposition to Disease Genetic Linkage Cloning, Molecular Serine Transcription Factors DNA Helicases Checkpoint Kinase 2 Transferrin Genes, p53 Plasmids Models, Genetic Ultraviolet Rays Family Health Adenosine Triphosphatases Transfection Guanylate Cyclase Founder Effect BRCA2 Protein Polymorphism, Genetic Carrier Proteins

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