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Article

Novel FIG4 mutations in Yunis-Varon syndrome.

Journal of human genetics - 1 Dec 2013

Nakajima Junya, Okamoto Nobuhiko, Shiraishi Jun, Nishimura Gen, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Kawashima Hisashi, Matsumoto Naomichi, Miyake Noriko

Abstract excerpt

Yunis-Varon syndrome (YVS, MIM 216340) is a rare autosomal recessive disorder characterized by skeletal abnormalities and severe neurological impairment with vacuolation of the central nervous system, skeletal muscles and cartilages. Very recently, mutations of the FIG4 (FIG4 homolog, SAC1 lipid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24088667
DOI: 10.1038/jhg.2013.104

Genes

FIG4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24088667-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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