Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who presented with hypotonia, profound developmental delays, and seizures. Brain magne...

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Detalles Bibliográficos
Autores principales: Ramadesikan, Swetha, Hickey, Scott, De Los Reyes, Emily, Patel, Anup D., Franklin, Samuel J., Brennan, Patrick, Crist, Erin, Lee, Kristy, White, Peter, McBride, Kim L., Koboldt, Daniel C., Wilson, Richard K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958912/
https://www.ncbi.nlm.nih.gov/pubmed/35091508
http://dx.doi.org/10.1101/mcs.a006165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958912/
https://www.ncbi.nlm.nih.gov/pubmed/35091508
http://dx.doi.org/10.1101/mcs.a006165

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