Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.S90fs
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SLC45A2

NM_016180.5:p.S90fs

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

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Moreno-Artero E et al.

Genes, 2022

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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