Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I501V
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BRCA2

NM_000059.4:p.I501V

Associated Papers

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM6_ESM.xlsx › Table_S5

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2

[Mechanisms of genomic instability in Fanconi anemia].

Itaya A et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R et al.

Human Mutation, 2002

[Fanconi anemia].

Bessho F

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

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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."