Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.W373*
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MYOC

NM_000261.2:p.W373*

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

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Scelsi HF et al.

Human Mutation, 2021

Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.

Crawford A et al.

Gene, 2014

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

Souzeau E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.

Souzeau E et al.

Ophthalmology, 2013

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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."