Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

PURPOSE: Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-number variations (CNVs), which have been...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Genet Med
Главные авторы: Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group US 2020
Предметы:
Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7272325/
https://ncbi.nlm.nih.gov/pubmed/32037395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0759-8
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы