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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Detalles Bibliográficos
Autores principales: Li, Yan-Ping, Shen, Ren-Juan, Cheng, You-Min, Zhao, Qingqing, Jin, Kangxin, Jin, Zi-Bing, Zhang, Shaodan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559921/
https://www.ncbi.nlm.nih.gov/pubmed/37809982
http://dx.doi.org/10.1016/j.heliyon.2023.e20146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559921/
https://www.ncbi.nlm.nih.gov/pubmed/37809982
http://dx.doi.org/10.1016/j.heliyon.2023.e20146

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