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: Y371D

PubMed Link: 36267417

Variant Present in the following documents:

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

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

International Journal Of Molecular Medicine

Wang, Fengyun F; Li, Yang Y; Lan, Lan L; Li, Bo B; Lin, Li L; Lu, Xiaohe X; Li, Jiping J

Publication Date: 2015-05

Variant appearance in text: MYOC: Y371D

PubMed Link: 25777973

Variant Present in the following documents:

• ijmm-35-05-1230.pdf

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Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Molecular Vision

Zhao, Xin X; Yang, Chaoshan C; Tong, Yi Y; Zhang, Xiaohui X; Xu, Liang L; Li, Yang Y

Publication Date: 2010-08-25

Variant appearance in text: MYOC: Y371D

PubMed Link: 20806035

Variant Present in the following documents:

• mv-v16-1728.pdf

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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

Molecular Vision

Avisar, Inbal I; Lusky, Moshe M; Robinson, Anat A; Shohat, Mordechai M; Dubois, Stéphane S; Raymond, Vincent V; Gaton, Dan D DD

Publication Date: 2009-09-24

Variant appearance in text: MYOC: Y371D

PubMed Link: 19784393

Variant Present in the following documents:

• Main text
• mv-v15-1945.pdf

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