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MYOC c.823A>T ;(p.K275*)
Variant ID: 1-171605757-T-A
NM_000261.1(
MYOC
):c.823A>T;(p.K275*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Updates on the molecular genetics of primary congenital glaucoma (Review).
Experimental And Therapeutic Medicine
Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X
Publication Date: 2020-08
Variant appearance in text: rs879255525
PubMed Link:
32742340
Variant Present in the following documents:
Main text
etm-20-02-0968.pdf
View BVdb publication page
A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.
Plos One
Nazir, Sabeen S; Mukhtar, Maryam M; Shahnawaz, Maryam M; Farooqi, Shaima S; Fatima, Naz N; Mehmood, Rabia R; Sheikh, Nadeem N
Publication Date: 2018
Variant appearance in text: rs879255525
PubMed Link:
29630620
Variant Present in the following documents:
Main text
pone.0195157.pdf
View BVdb publication page