Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V506V
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SLC45A2

NM_016180.5:p.V506V

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_MOESM2_ESM.pdf

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

Seguy PH et al.

Investigative Ophthalmology & Visual Science, 2023

37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
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