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Article

A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.

Cold Spring Harbor molecular case studies - 1 Aug 2020

Zhong Yiming, Schubert Jeffrey, Wu Jinhua, Xu Feng, Lin Fumin, Cao Kajia, Zelley Kristin, Luo Minjie, Foster Jessica B, Cole Kristina A, MacFarland Suzanne P, Resnick Adam C, Storm Phillip B, Li Marilyn M

Abstract excerpt

PALB2 (partner and localizer of BRCA2) gene encodes a protein that colocalizes with BRCA2 in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2PALB2 plays a critical role in maintaining genome integrity through its role in the Fanconi anemia and homologous recombination DNA repair pathways. It has a known loss-of-function disease mechanism. Biallelic PALB2 pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32554798
DOI: 10.1101/mcs.a005397
PMCID: PMC7476410

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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