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Article

Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.

Molecular medicine reports - 1 Feb 2018

Wang Jiao, Pu Zhongji, Lu Zhenhua

Abstract excerpt

Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi‑to‑endoplasmic reticulum retrograde transport. Exon capture in combination with high‑throughput sequencing was used to detect NBAS mutations. Via targeted sequencing, two causative mutations were identified from 358 selected genes associated with growth and development...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29207168
DOI: 10.3892/mmr.2017.8191
PMCID: PMC5783466

Genes

NBAS

Variants

Provenance

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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