Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R945Splc
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PALB2

NM_024675.4:p.R945Splc

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_5

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC et al.

The New England Journal of Medicine, 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."