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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subuni...
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| Publicat a: | J Med Genet |
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| Autors principals: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6056005/ https://ncbi.nlm.nih.gov/pubmed/28626029 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104627 |
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