Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D380Y
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MYOC

NM_000261.2:p.D380Y

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Burdon KP et al.

Human Mutation, 2022

Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Zhou B et al.

Frontiers in Genetics, 2022

36267417 (PubMed )
Supplement: Table1.xlsx › Sheet1

[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma].

Zhang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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