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 Association of TYR rs7129973 With Vitiligo Vulgaris in Mexicans.
Salinas-Santander MA et al.
Actas Dermo-sifiliograficas, 2025
Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.
Kaul H et al.
Biochemical Genetics, 2025
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
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes, 2022
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z et al.
Current Eye Research, 2021
Association Analysis of Tumor Necrosis Factor Alpha Promoter Polymorphisms and Vitiligo Susceptibility in South Indian Tamils.
Rajendiran KS et al.
Dermatology (basel, Switzerland), 2020
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.
Shakil M et al.
Eye (london, England), 2019
Retinal pigment epithelium findings in patients with albinism using wide-field polarization-sensitive optical coherence tomography.
Schütze C et al.
Retina (philadelphia, Pa.), 2014
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