Varaico: Literature-Extracted Genetic Variants

Gene:SVEP1
Variant:p.R997C
Back to variants list

SVEP1

NM_153366.4:p.R997C

Associated Papers

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Cronbach N et al.

Pharmaceuticals (basel, Switzerland), 2025

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

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

Young TL et al.

Investigative Ophthalmology & Visual Science, 2020

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."