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Article

The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.

Orphanet journal of rare diseases - 14 Feb 2026

Liu Lisheng, Fang Mingjuan, Ai Wenlong, Shu Shan, Zhao Wen, Yan Yan, Cheng Nan, Hu Wenbin, Xu Yin

Abstract excerpt

BACKGROUND: Genetic studies have reported the ATP7B c.3316 G > A variant in Wilson disease (WD). However, the phenotypic characteristics of ATP7B c.3316 G > A remained unclear. We aimed to explore the ATP7B c.3316 G > A genotype-phenotype correlation and its clinical characteristics in patients of WD. METHODS: A single-center cohort study enrolled 44 WD patients with c.3316 G > A variant from 43 unrelated Chinese...

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Identifiers

PMID: 41691313
DOI: 10.1186/s13023-026-04259-9
PMCID: PMC13059575

Genes

ATP7B
CP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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