Article

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

2023-07-10

Abstract excerpt

<h4>Background: </h4> Protein CCDC186 is involved in the maturation of dense core vesicles in the trans-Golgi network in neurons and endocrine cells. 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 described. However, no functional studies in any of these two cases had been performed. <h4>Methods:</h4> Exome sequencing...

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Literature Corpus work: 203a4e02-f459-5979-bcec-c53a92fa5cef
DOI: 10.20944/preprints202307.0520.v1

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