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[Analysis of PNPLA1 gene mutation in a child with ichthyosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020

Li Han, Qiao Lixing

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with ichthyosis. METHODS: High-throughput sequencing was carried out to detect genomic copy number variants (CNVs) and variant of the medical exome. Candidate variant was verified by Sanger sequencing. RESULTS: No disease-related CNV was identified in the patient. High-throughput sequencing revealed that the child has carried compound heterozygous variants of...

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PMID: 32924119
DOI: 10.3760/cma.j.cn511374-20191028-00546

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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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