Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125...

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Detalles Bibliográficos
Autores principales: Suvannaboon, Ragkit, Pawestri, Aulia Rahmi, Jinda, Worapoj, Tuekprakhon, Aekkachai, Trinavarat, Adisak, Atchaneeyasakul, La-ongsri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748023/
https://www.ncbi.nlm.nih.gov/pubmed/36513702
http://dx.doi.org/10.1038/s41598-022-26017-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748023/
https://www.ncbi.nlm.nih.gov/pubmed/36513702
http://dx.doi.org/10.1038/s41598-022-26017-0

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