Varaico: Literature-Extracted Genetic Variants

Gene:SVEP1
Variant:p.R492Q
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SVEP1

NM_153366.4:p.R492Q

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

Young TL et al.

Investigative Ophthalmology & Visual Science, 2020

33027505 (PubMed )
Supplement: iovs-61-12-6_s002.pdf
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