Publications:

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

Frontiers In Genetics

Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y

Publication Date: 2022

Variant appearance in text: MYOC: C25R

PubMed Link: 36267417

Variant Present in the following documents:

• Main text
• Table2.xlsx, sheet 1
• fgene-13-1019208.pdf

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

International Journal Of Ophthalmology

Moon, Sangwoo S; Kim, Namhee N; Lee, Jiwoong J

Publication Date: 2020

Variant appearance in text: MYOC: Cys25Arg

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GLC1A: C25R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Experimental Eye Research

Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA

Publication Date: 2016-03

Variant appearance in text: MYOC: C25R

PubMed Link: 26302411

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYOC: C25R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page