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A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
BACKGROUND: Next generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membra...
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| Publicat a: | J Med Genet |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7904957/ https://ncbi.nlm.nih.gov/pubmed/32843486 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107016 |
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