Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.T317T
Back to variants list

BRCA2

NM_000059.4:p.T317T

Associated Papers

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.

Tomaszowski KH et al.

Nature Communications, 2023

36906610 (PubMed )
Supplement: 41467_2023_36933_MOESM1_ESM.pdf

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC et al.

Blood, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."