Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.T316I
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SLC24A5

NM_205850.3:p.T316I

Associated Papers

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

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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