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Article

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

PloS one - 1 Jan 2016

Wang Neng-Li, Lu Yu-Lan, Zhang Ping, Zhang Mei-Hong, Gong Jing-Yu, Lu Yi, Xie Xin-Bao, Qiu Yi-Ling, Yan Yan-Yan, Wu Bing-Bing, Wang Jian-She

Abstract excerpt

BACKGROUND AND AIMS: Large indels are commonly identified in patients but are not detectable by routine Sanger sequencing and panel sequencing. We specially designed a multi-gene panel that could simultaneously test known large indels in addition to ordinary variants, and reported the diagnostic yield in patients with intrahepatic cholestasis. METHODS: The panel contains 61 genes associated with cholestasis and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to INDEL Mutation

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Identifiers

PMID: 27706244
DOI: 10.1371/journal.pone.0164058
PMCID: PMC5051675

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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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