The utility of whole exome sequencing in diagnosing Wilson disease: A case report.

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Bibliographic Details
Title: The utility of whole exome sequencing in diagnosing Wilson disease: A case report.
Authors: Palan MJ; Department of Pediatrics Oregon Health & Science University Portland Oregon USA., Simpson D; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA., Miranda C; Department of Genetics Randall Children's Genetics and Metabolism Portland Oregon USA., Hakar M; Department of Pathology and Laboratory Medicine Oregon Health & Science University Portland Oregon USA., Lin HC; Department of Pediatrics Oregon Health & Science University Portland Oregon USA.; Division of Pediatric Gastroenterology, Doernbecher Children's Hospital Portland Oregon USA.
Source: JPGN reports [JPGN Rep] 2026 Apr 03. Date of Electronic Publication: 2026 Apr 03.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101773885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2691-171X (Electronic) Linking ISSN: 2691171X NLM ISO Abbreviation: JPGN Rep
Database: MEDLINE Ultimate
Description
ISSN:2691-171X
DOI:10.1002/jpr3.70179