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Article

[Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Li Qian, Huang Jia, Dai Xing, He Jiahuan, Li Congmin, Wang Yue, Liu Hongyan

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with pseudohypoparathyroidism. METHODS: Peripheral blood samples of the proband and his parents were collected and subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified among the pedigree and 50 randomly selected healthy individuals through analysis of restriction fragment length polymorphism. Short tandem...

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PMID: 36584997
DOI: 10.3760/cma.j.cn511374-20211220-01008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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