Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2067fs
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BRCA2

NM_000059.4:p.S2067fs

Associated Papers

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.

Mohsin N et al.

Jama Dermatology, 2024

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.

Poon KS et al.

Global Medical Genetics, 2021

Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Hwang SM et al.

Cancer Research and Treatment, 2018

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Kang HP et al.

Peerj, 2016

27375968 (PubMed )
Supplement: peerj-04-2162-s004.xlsx › Sheet1
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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."