Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.R134S
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TSPAN12

NM_012338.4:p.R134S

Associated Papers

Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

Ju Y et al.

Human Genomics, 2024

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.

Kondo H et al.

Translational Vision Science & Technology, 2021

34128965 (PubMed )
Supplement: tvst-10-7-18_s001.pdf

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 0

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