Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y101Splc
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BRCA1

NM_007294.4:p.Y101Splc

Associated Papers

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2012

BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2010

Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.

Agiannitopoulos K et al.

Cancer Genomics & Proteomics, 0

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