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Article

Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non-syndromic Premature Ovarian Insufficiency.

Clinical genetics - 1 Jan 2025

Pan Yuncheng, Mo Jitong, Ren Shuting, Zhang Yifei, Zhang Feng, Zhang Xiaojin, Wu Yanhua

Abstract excerpt

Two novel heterozygous missense mutations in BNC1 (NM_001717): c.1000A>G (p.Arg334Gly) and c.1535C>T (p.Pro512Leu) were identified through whole-exome sequencing in two Han Chinese POI patients, expanding the spectrum of BNC1 variants in non-syndromic POI diseases.

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Source

Identifiers

PMID: 39462784
DOI: 10.1111/cge.14639

Genes

BNC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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