MYOC c.38C>T ;(p.P13L)

Variant ID: 1-171621714-G-A

NM_000261.1(MYOC):c.38C>T;(p.P13L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: 38C>T; Pro13Leu
PubMed Link: 35566612
Variant Present in the following documents:
  • jcm-11-02486.pdf
View BVdb publication page



Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.

Clinical And Translational Medicine
Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L
Publication Date: 2021-12

Variant appearance in text: MYOC: P13L
PubMed Link: 34923768
Variant Present in the following documents:
  • CTM2-11-e620-s006.xlsx, sheet 2
View BVdb publication page



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: Pro13Leu
PubMed Link: 33214997
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 38C>T; P13L
PubMed Link: 29600168
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P13L
PubMed Link: 25777973
Variant Present in the following documents:
  • Main text
  • ijmm-35-05-1230.pdf
View BVdb publication page



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

Molecular Vision
Xie, Xiaobing X; Zhou, Xin X; Qu, Xiying X; Wen, Jing J; Tian, Yanli Y; Zheng, Fang F
Publication Date: 2008-09-05

Variant appearance in text: MYOC: Pro13Leu
PubMed Link: 18776955
Variant Present in the following documents:
  • Main text
  • mv-v14-1666.pdf
View BVdb publication page