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Article

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Molecular vision - 1 Jan 2014

Xu Yu, Huang Lulin, Li Jing, Zhang Qi, Fei Ping, Zhu Xiong, Tai Zhengfu, Ma Shi, Gong Bo, Li Yun, Zang Weizhou, Zhu Xianjun, Zhao Peiquan, Yang Zhenglin

Abstract excerpt

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was to identify novel TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS:...

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Source

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Identifiers

PMID: 25352738
PMCID: PMC4169774

Genes

TSPAN12

Variants

Provenance

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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