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Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker - Wildeman - 2008 - Human Mutation - Wiley Online Library
Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 - Guidugli - 2014 - Human Mutation - Wiley Online Library
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 | Genetics
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries - Laitman - 2019 - Human Mutation - Wiley Online Library
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays | Genetics
Genomic Databases: Emerging Tools for Molecular Diagnostics - ScienceDirect
GENETIC VARIANTS: SIMPLE ENOUGH FOR MY DAUGHTER'S 4TH GRADE CLASS
Germ line BRCA1 pathogenic mutations in breast and ovarian cancer... | Download Table
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia | Semantic Scholar
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer | Human Genome Variation
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife
Recurrent mutation testing of BRCA1 and BRCA2 in asian breast cancer patients identify carriers in those with presumed low risk by family history - Document - Gale OneFile: Health and Medicine
PDF) A Python Package for Parsing, Validating, Mapping, and Formatting Sequence Variants Using HGVS Nomenclature
Frameshift mutations detected in BRCA genes | Download Table
dbBRCA - Chinese
Recurrent mutation testing of BRCA1 and BRCA2 in asian breast cancer patients identify carriers in those with presumed low risk by family history - Document - Gale OneFile: Health and Medicine
PDF] Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history | Semantic Scholar