Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.W245_K246Splc
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POFUT1

NM_015352.2:p.W245_K246Splc

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_MOESM1_ESM.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_MOESM1_ESM.pdf
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