A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in FEVR subjects within a set of FEV...

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Detalles Bibliográficos
Autores principales: Cicerone, Amanda Petrelli, Dailey, Wendy, Sun, Michael, Santos, Andrew, Jeong, Daeun, Jones, Lance, Koustas, Konstaninos, Drekh, Mary, Schmitz, Keaton, Haque, Naomi, Felisky, Jennifer A., Guzman, Alvaro E., Mellert, Kendra, Trese, Michael T., Capone, Antonio, Drenser, Kimberly A., Mitton, Kenneth P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953269/
https://www.ncbi.nlm.nih.gov/pubmed/35328049
http://dx.doi.org/10.3390/genes13030495

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