Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3

Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3

Inherited retinal dystrophies (IRDs) are a heterogeneous group of visual disorders caused by different pathogenic mutations in genes and regulatory sequences. The endoplasmic reticulum (ER) membrane protein complex (EMC) subunit 3 (EMC3) is the core unit of the EMC insertase that integrates the tran...

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Bibliographic Details
Main Authors: Yan-Ping Li, Ren-Juan Shen, You-Min Cheng, Qingqing Zhao, Kangxin Jin, Zi-Bing Jin, Shaodan Zhang
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Heliyon
Subjects:
ER membrane protein complex (EMC)
EMC3
Inherited retinal dystrophy (IRD)
Dominant
Retinal pigment epithelia (RPE)
Cone rod dystrophy (CRD)
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844023073541

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http://www.sciencedirect.com/science/article/pii/S2405844023073541

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