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Article

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.

Nature communications - 25 Feb 2020

Guelfi Sebastian, D'Sa Karishma, Botía Juan A, Vandrovcova Jana, Reynolds Regina H, Zhang David, Trabzuni Daniah, Collado-Torres Leonardo, Thomason Andrew, Quijada Leyton Pedro, Gagliano Taliun Sarah A, Nalls Mike A, Small Kerrin S, Smith Colin, Ramasamy Adaikalavan, Hardy John, Weale Michael E, Ryten Mina

Abstract excerpt

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related...

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Identifiers

PMID: 32098967
DOI: 10.1038/s41467-020-14483-x
PMCID: PMC7042265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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