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Article

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

International journal of molecular sciences - 1 Aug 2023

Arrabal Luisa, Muñoz-Pujol Gerard, Medina Martínez Inmaculada, Gort Laura, García-Villoria Judit, Roldán Susana, Tort Frederic, Ribes Antonia

Abstract excerpt

CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) in the trans-Golgi network in neurons and endocrine cells. Mutations in genes involved in DCV regulation, other than CCDC186, have been described in patients with neurodevelopmental disorders. To date, only one patient, within a large sequencing study of 1000 cases, and a single case report with variants in CCDC186, had previously been...

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Identifiers

PMID: 37569695
DOI: 10.3390/ijms241512319
PMCID: PMC10419233

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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.PMID 37569695Read ↗

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