Oculocutaneous albinism spectrum
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32939/fullpdf
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1. Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism;Diagnostics;2024-07-23
2. Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report;International Journal of Molecular Sciences;2024-06-11
3. Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B);npj Genomic Medicine;2022-01-13
4. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism;Genes;2021-03-30
5. Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing;Ophthalmic Genetics;2021-02-18
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