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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654171/
https://ncbi.nlm.nih.gov/pubmed/33167890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01159-y
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