Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D970N
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BRCA2

NM_000059.4:p.D970N

Associated Papers

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L et al.

Human Mutation, 2014

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."