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MYOC c.1041T>A ;(p.Y347*)
Variant ID: 1-171605539-A-T
NM_000261.1(
MYOC
):c.1041T>A;(p.Y347*)
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:
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Experimental Eye Research
Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA
Publication Date: 2016-03
Variant appearance in text: MYOC: Y347X
PubMed Link:
26302411
Variant Present in the following documents:
Main text
View BVdb publication page
Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.
Journal Of Ophthalmic & Vision Research
Elahi, Elahe E; Narooie-Nejhad, Mehrnaz M; Suri, Fatemeh F; Yazdani, Shahin S
Publication Date: 2010-04
Variant appearance in text: MYOC: 1041T>A
PubMed Link:
22737338
Variant Present in the following documents:
Main text
jovr-5-2-192-686-2-pb.pdf
View BVdb publication page