Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.S16Y
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TYR

NM_000372.5:p.S16Y

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

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.

Shihab RN et al.

Clinical Case Reports, 2025

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

Li C et al.

The Journal of Biological Chemistry, 2022

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