Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing

Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of pathogenic variants in EYS, the cause of auto...

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Detalles Bibliográficos
Autores principales: Sano, Yusuke, Koyanagi, Yoshito, Wong, Jing Hao, Murakami, Yusuke, Fujiwara, Kohta, Endo, Mikiko, Aoi, Tomomi, Hashimoto, Kazuki, Nakazawa, Toru, Wada, Yuko, Ueno, Shinji, Gao, Dan, Murakami, Akira, Hotta, Yoshihiro, Ikeda, Yasuhiro, Nishiguchi, Koji M, Momozawa, Yukihide, Sonoda, Koh-Hei, Akiyama, Masato, Fujimoto, Akihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Structural Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9613870/
https://www.ncbi.nlm.nih.gov/pubmed/35710107
http://dx.doi.org/10.1136/jmedgenet-2022-108428

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