Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.Y96C
Back to variants list

TSPAN12

NM_012338.4:p.Y96C

Associated Papers

Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

Ju Y et al.

Human Genomics, 2024

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
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."