Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S349fs
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TYR

NM_000372.5:p.S349fs

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

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Kessel L et al.

Ophthalmic Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."