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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
Coiled‐Coil Domain Containing Protein 186 (CCDC186) is hypothesized to play an important role in the biogenesis of dense‐core vesicles in neurons and endocrine cells. Biallelic loss‐of‐function variants in the encoding gene CCDC186 have been suggested as a candidate gene for a neurodevelopmental phe...
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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7818090/ https://ncbi.nlm.nih.gov/pubmed/33259146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51260 |
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