New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Yingwei, Wang, Junwen, Jiang, Yi, Zhu, Di, Ouyang, Jiamin, Yi, Zhen, Li, Shiqiang, Jia, Xiaoyun, Xiao, Xueshan, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095211/
https://www.ncbi.nlm.nih.gov/pubmed/37047703
http://dx.doi.org/10.3390/ijms24076728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095211/
https://www.ncbi.nlm.nih.gov/pubmed/37047703
http://dx.doi.org/10.3390/ijms24076728

Ejemplares similares