Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S44N
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TYR

NM_000372.5:p.S44N

Associated Papers

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.

Lv S et al.

The Journal of Investigative Dermatology, 2025

Uncovering minimal pathways in melanoma initiation.

Xiao H et al.

Nature Communications, 2025

40571713 (PubMed )
Supplement: 41467_2025_60742_MOESM4_ESM.xlsx › Supplementary_Data_6

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K et al.

Pigment Cell & Melanoma Research, 2021

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.

Okamura K et al.

Journal of Dermatological Science, 2014

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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."