Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.L454*
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SLC24A5

NM_205850.3:p.L454*

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

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.

Woertz EN et al.

Investigative Ophthalmology & Visual Science, 2024

38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf

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

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Rayner JE et al.

Plos One, 2020

32966289 (PubMed )
Supplement: pone.0238529.s003.docx
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