Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D77E
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MYOC

NM_000261.2:p.D77E

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

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

The dawn of genetic testing for glaucoma.

Cohen CS et al.

Current Opinion in Ophthalmology, 2004

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

Faucher M et al.

Human Molecular Genetics, 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."