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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker - Wildeman - 2008 - Human Mutation - Wiley Online Library
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker - Wildeman - 2008 - Human Mutation - Wiley Online Library

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia | Semantic Scholar
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia | Semantic Scholar

ENIGMA variant classification process. ENIGMA, Evidence-based Network... | Download Scientific Diagram
ENIGMA variant classification process. ENIGMA, Evidence-based Network... | Download Scientific Diagram

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer | Human Genome Variation
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer | Human Genome Variation

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
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

Frameshift mutations detected in BRCA genes | Download Table
Frameshift mutations detected in BRCA genes | Download Table

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine

PDF) A Python Package for Parsing, Validating, Mapping, and Formatting Sequence Variants Using HGVS Nomenclature
PDF) A Python Package for Parsing, Validating, Mapping, and Formatting Sequence Variants Using HGVS Nomenclature

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
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

Novel variants of uncertain clinical significance (VUS) in Greek... | Download Table
Novel variants of uncertain clinical significance (VUS) in Greek... | Download Table

Truncating mutations in BRCA1, BRCA2 and PALB2 among 40 TNBC patients. | Download Table
Truncating mutations in BRCA1, BRCA2 and PALB2 among 40 TNBC patients. | Download Table

Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife

Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 | Genetics
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 | Genetics

BRCA Exchange
BRCA Exchange

dbBRCA - Chinese
dbBRCA - Chinese

Experimentally observed effects on mRNA splicing of group A variants... | Download Table
Experimentally observed effects on mRNA splicing of group A variants... | Download Table

PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 - Guidugli - 2014 - Human Mutation - Wiley Online Library
Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 - Guidugli - 2014 - Human Mutation - Wiley Online Library

A Reference System for BRCA Mutation Detection Based on Next-Generation Sequencing in the Chinese Population - The Journal of Molecular Diagnostics
A Reference System for BRCA Mutation Detection Based on Next-Generation Sequencing in the Chinese Population - The Journal of Molecular Diagnostics

PLOS ONE: Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers
PLOS ONE: Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers

Genomic Databases: Emerging Tools for Molecular Diagnostics - ScienceDirect
Genomic Databases: Emerging Tools for Molecular Diagnostics - ScienceDirect

Online Resource 1A: BRCA1 mutations tested Mutation (BIC
Online Resource 1A: BRCA1 mutations tested Mutation (BIC

Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location | HTML
Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location | HTML