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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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| Publicat a: | BMC Med Genet |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | 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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