Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.P13L
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MYOC

NM_000261.2:p.P13L

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

Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

Moon S et al.

International Journal of Ophthalmology, 2020

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

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Yang Y et al.

Gene, 2015

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

Wang F et al.

International Journal of Molecular Medicine, 2015

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Xie X et al.

Molecular Vision, 2008

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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."