Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.R331W
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SLC4A11

NM_001174089.2:p.R331W

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

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM et al.

Progress in Retinal and Eye Research, 2024

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_11
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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."