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Article

Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.

Clinical genetics - 1 Dec 2024

Zhou Ling, Yang Min, Mei Mei, Mai Zhuoyao, Li Xiaojuan, Deng Kewen, Chen Shiyi, Lin Siyuan, Li Yinshi, Jiang Weilun, Chen Hui, He Zuyong, Yuan Ping

Abstract excerpt

Whole-exome sequencing (WES) is frequently utilized in diagnosing reproductive genetic disorders to identify various genetic variants. Canonical ±1,2 splice sites are typically considered highly pathogenic, while variants at the 5' or 3' ends of exon boundaries are often considered synonymous or missense variants, with their potential impact on abnormal gene splicing frequently overlooked. In this study, we...

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PMID: 39103988
DOI: 10.1111/cge.14604

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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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