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: N57D

PubMed Link: 36267417

Variant Present in the following documents:

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

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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: N57D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: N57D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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

Bmc Genetics

Shepard, Allan R AR; Jacobson, Nasreen N; Sui, Ruifang R; Steely, H Thomas HT; Lotery, Andrew J AJ; Stone, Edwin M EM; Clark, Abbot F AF

Publication Date: 2003-04-02

Variant appearance in text: MYOC: Asn57Asp

PubMed Link: 12697062

Variant Present in the following documents:

• Main text

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