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Article

FANCL gene mutations in premature ovarian insufficiency.

Human mutation - 1 May 2020

Yang Yajuan, Guo Ting, Liu Ran, Ke Hanni, Xu Weiwei, Zhao Shidou, Qin Yingying

Abstract excerpt

The Fanconi anemia (FA) pathway is mainly involved in DNA interstrand crosslinks (ICLs) repair in the genome. Several FA genes, including FANCD1/BRCA2, FANCM, and FANCU/XRCC2, have been identified as causative genes for premature ovary insufficiency (POI). Fanconi anemia group L protein (FANCL) cooperates with FANCT/UBE2T to ubiquitinate the FANCI-D2 dimer, which is a crucial event in the process of ICLs repair....

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PMID: 32048394
DOI: 10.1002/humu.23997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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