Article

Structural characterization of a polymorphic repeat at the CACNA1C schizophrenia locus

2024-03-07

Abstract excerpt

Genetic variation within intron 3 of the CACNA1C calcium channel gene is associated with schizophrenia and other neuropsychiatric disorders, but analysis of the causal variants and their effect is complicated by a nearby variable-number tandem repeat (VNTR). Here, we explored the structure and population variability of the CACNA1C intron 3 VNTR using 155 long-read genome assemblies from 78 diverse individuals. Bas...

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Literature Corpus work: a6c7e8aa-cdc1-556e-971a-454b9855e61e
DOI: 10.1101/2024.03.05.24303780

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