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Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

Human genomics - 1 Mar 2024

Ju Yuqiao, Chen Tianhui, Ruan Lu, Zhao Ye, Chang Qing, Huang Xin

Abstract excerpt

BACKGROUND: To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible mechanism of a repeated novel intronic variant in TSPAN12 led to FEVR. RESULTS: Nine TSPAN12 mutations with a unique form of FEVR were detected by panel-based NGS. MINI-Gene assay showed two splicing modes of mRNA that process two different bands A and B, and mutant-type...

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Identifiers

PMID: 38424652
DOI: 10.1186/s40246-024-00589-6
PMCID: PMC10905792

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