Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.P798insFs
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PALB2

NM_024675.4:p.P798insFs

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2025

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

Pauty J et al.

The Biochemical Journal, 2014

Novel germline PALB2 truncating mutations in African American breast cancer patients.

Zheng Y et al.

Cancer, 2012

DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

Rübe CE et al.

International Journal of Radiation Oncology, Biology, Physics, 2010

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."