Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

BACKGROUND: Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet...

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Detalles Bibliográficos
Autores principales: Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654171/
https://www.ncbi.nlm.nih.gov/pubmed/33167890
http://dx.doi.org/10.1186/s12881-020-01159-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654171/
https://www.ncbi.nlm.nih.gov/pubmed/33167890
http://dx.doi.org/10.1186/s12881-020-01159-y

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