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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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