Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Q48E
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MYOC

NM_000261.2:p.Q48E

Associated Papers

Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.

Yadav M et al.

Japanese Journal of Ophthalmology, 2025

CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.

Do T et al.

Journal of Glaucoma, 2016

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

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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."