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[Functional validation of a rare SOS1 gene variant and literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2026

Jing Xiaosha, Liu Yao, Yang Yanting, Liu Hongqian

Abstract excerpt

OBJECTIVE: To analyze the functional impact of a rare heterozygous variant of SOS1 gene (c.283G>A, p.E95K) identified in a fetus with cervical cystic hygroma and to explore its association with the disease phenotype. METHODS: A pedigree analysis was carried out to evaluate the co-segregation of the variant with the disease phenotype. Bioinformatic tools were employed to assess the conservation, protein structure...

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Identifiers

PMID: 41916886
DOI: 10.3760/cma.j.cn511374-20251203-00699

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SOS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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