PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, desc...

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Detalles Bibliográficos
Autores principales: Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., den Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Mutation Updates
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290825/
https://www.ncbi.nlm.nih.gov/pubmed/34411390
http://dx.doi.org/10.1002/humu.24275

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