Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D384N
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MYOC

NM_000261.2:p.D384N

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

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

Burdon KP et al.

Human Mutation, 2022

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Xie JJ et al.

Ophthalmic Genetics, 2022

35014583 (PubMed )
Supplement: supplement_1.pdf

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Yang Y et al.

Gene, 2015

Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma.

Zhou XM et al.

International Journal of Ophthalmology, 2013

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.

Jia LY et al.

Investigative Ophthalmology & Visual Science, 2009

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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."