Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.S32fs
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TSPAN12

NM_012338.4:p.S32fs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

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

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

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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."