Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA
Variant:p.A192D
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LRMDA

NM_001305581.2:p.A192D

Associated Papers

Albinism: from genetics to cell biology and physiopathology.

Diallo M et al.

Presse Medicale (paris, France : 1983), 2025

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Shchagina O et al.

Biomedicines, 2024

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Chuan Z et al.

Current Eye Research, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."