Associated Papers
Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.
Peterson SM et al.
G3 (bethesda, Md.), 2023
37522525 (PubMed )
Supplement: jkad168_supplementary_data.zip › STables_Peterson_etal.xlsx › Supplementary_Table_1
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Dolinska MB et al.
Protein Science : a Publication of the Protein Society, 2023
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Gul H et al.
Annals of Human Genetics, 2019
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
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