Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L95P
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MYOC

NM_000261.2:p.L95P

Associated Papers

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

Myocilin misfolding and glaucoma: A 20-year update.

Saccuzzo EG et al.

Progress in Retinal and Eye Research, 2023

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

Burdon KP et al.

Human Mutation, 2022

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

Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin.

Hill SE et al.

Structure (london, England : 1993), 2017

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.

Gobeil S et al.

Experimental Eye Research, 2006

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.

Pang CP et al.

Investigative Ophthalmology & Visual Science, 2002

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP et al.

Human Mutation, 2002

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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."