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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Maria Said

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Open access Jul 2026

Molecular Characterization of a Recurrent Pathogenic TYR Variant in a Consanguineous Family with Oculocutaneous Albinism Type 1

Findings provide molecular confirmation of a recurrent pathogenic TYR variant and expand the available genetic data for an underrepresented population, highlighting the importance of molecular diagnosis and genetic counselling in communities with a high prevalence of consanguineous marriages.

Harmain Saba, Alia Said, Dr Inayat-ur-Rehman et al. · 0 citations