Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.N57D
Back to variants list

MYOC

NM_000261.2:p.N57D

Associated Papers

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

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

Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Zhou B et al.

Frontiers in Genetics, 2022

Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.

Labelle-Dumais C et al.

Disease Models & Mechanisms, 2020

Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.

Shepard AR et al.

Bmc Genetics, 2003

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

Shimizu S et al.

American Journal of Ophthalmology, 2000

Juvenile-onset open-angle glaucoma - A clinical and genetic update.

Selvan H et al.

Survey of Ophthalmology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."