Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.A995fs
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PALB2

NM_024675.4:p.A995fs

Associated Papers

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J et al.

Journal of Medical Genetics, 2016

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

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

Pauty J et al.

The Biochemical Journal, 2014

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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."