Varaico: Literature-Extracted Genetic Variants

Gene:SPATA13
Variant:p.S246T
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SPATA13

NM_001166271.3:p.S246T

Associated Papers

Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis.

Liang YJ et al.

Jama Ophthalmology, 2024

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

Waseem NH et al.

Plos Genetics, 2020

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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."