Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.N40_T49del10
Back to variants list

TSPAN12

NM_012338.4:p.N40_T49del10

Associated Papers

Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.

Tian T et al.

Molecular Vision, 2019

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

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."