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.




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