Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.A3122_S3123delFs
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BRCA2

NM_000059.4:p.A3122_S3123delFs

Associated Papers

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Svojgr K et al.

European Journal of Medical Genetics, 2016

[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].

Puchmajerová A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

[Juvenile polyposis syndrome].

Vasovčák P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

[Hereditary diffuse gastric cancer].

Puchmajerová A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

[Evaluation of variants of unknown significance in the BRCA2 gene].

Heczková M et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

[Our experience with analysis of the PTEN gene in patients suspected of having Cowden syndrome].

Vasovcák P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2010

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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."