Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.M2393_R2394insCT
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BRCA2

NM_000059.4:p.M2393_R2394insCT

Associated Papers

Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.

Abdulkareem AA et al.

Biomedical Reports, 2024

Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.

Pauty J et al.

The Biochemical Journal, 2014

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S et al.

Nature Genetics, 2007

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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."