Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.L36delFs
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TYRP1

NM_000550.3:p.L36delFs

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

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

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Rooryck C et al.

Pigment Cell & Melanoma Research, 2008

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Rooryck C et al.

Pigment Cell Research, 2006

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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."