Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D384G
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MYOC

NM_000261.2:p.D384G

Associated Papers

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Experimental Eye Research, 2025

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Biorxiv : the Preprint Server for Biology, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

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

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

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

A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Cai SP et al.

Molecular Vision, 2012

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