Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.W246*
Back to variants list

TSPAN12

NM_012338.4:p.W246*

Associated Papers

Impact of neonatal family screening in early-onset management of TSPAN 12 positive Familial Exudative Vitreoretinopathy- a case report.

Shettigar MP et al.

Retinal Cases & Brief Reports, 2025

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

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

Kondo H et al.

Ophthalmology Science, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."