Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G399D
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MYOC

NM_000261.2:p.G399D

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

Comprehensive analysis of myocilin variants in east Indian POAG patients.

Banerjee D et al.

Molecular Vision, 2012

Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.

Acharya M et al.

Journal of Genetics, 2008

Myocilin variants in Indian patients with open-angle glaucoma.

Bhattacharjee A et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2007

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.

Flintoff K et al.

Human Genetics, 2007

Gene symbol: ALMS1.

Flintoff KJ et al.

Human Genetics, 2007

Gene symbol: ABCD1.

Dvorakova L et al.

Human Genetics, 2007

Gene symbol: VHL.

Mavrogiannis LA et al.

Human Genetics, 2007

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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."