Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.W308G
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SLC24A5

NM_205850.3:p.W308G

Associated Papers

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2021

34415986 (PubMed )
Supplement: iovs-62-10-23_s007.xlsx › Sheet1

In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous albinism type 6 (OCA 6) disorder.

Kumar R et al.

Journal of Biomolecular Structure & Dynamics, 2019

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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."