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[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Sha Yanwei, Li Lin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with amyloidosis cutis dyschromica. METHODS: High-throughput sequencing was carried out for the proband. Bioinformatic analysis was used to identify the pathogenic variants. The result was verified by Sanger sequencing. RESULTS: A homozygous nonsense variant c.565C>T (p.Arg189X) of the GPNMB gene was identified in the proband, his elder...

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PMID: 33565062
DOI: 10.3760/cma.j.cn511374-20200210-00063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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