Publications:

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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: V53A

PubMed Link: 36267417

Variant Present in the following documents:

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

View BVdb publication page

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: MYOC: Val53Ala

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

View BVdb publication page

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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: Val53Ala

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MYOC: 158T>C; Val53Ala; rs200208925

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

International Journal Of Ophthalmology

Yao, Yi-Hua YH; Wang, Ya-Qin YQ; Fang, Wei-Fang WF; Zhang, Liu L; Yang, Ju-Hua JH; Zhu, Yi-Hua YH

Publication Date: 2018

Variant appearance in text: MYOC: 158T>C; V53A

PubMed Link: 29600168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: MYOC: V53A

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: MYOC: V53A

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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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: V53A; rs200208925

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: V53A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Molecular Vision

Jia, Li-Yun LY; Tam, Pancy Oi-Sin PO; Chiang, Sylvia Wai-Yee SW; Ding, Ning N; Chen, Li Jia LJ; Yam, Gary Hin-Fai GH; Pang, Chi-Pui CP; Wang, Ning-Li NL

Publication Date: 2009

Variant appearance in text: MYOC: Val53Ala

PubMed Link: 19145250

Variant Present in the following documents:

• Main text
• mv-v15-89.pdf

View BVdb publication page

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