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Article

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.

PLoS genetics - 1 Sept 2020

Liang Zhengzheng S, Cimino Irene, Yalcin Binnaz, Raghupathy Narayanan, Vancollie Valerie E, Ibarra-Soria Ximena, Firth Helen V, Rimmington Debra, Farooqi I Sadaf, Lelliott Christopher J, Munger Steven C, O'Rahilly Stephen, Ferguson-Smith Anne C, Coll Anthony P, Logan Darren W

Abstract excerpt

Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood. In an analysis of brain-specific allele-biased expression, we identified that Trappc9, a cellular trafficking factor, was expressed predominantly (~70%) from the maternally inherited allele. Loss-of-function mutations in human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32877400
DOI: 10.1371/journal.pgen.1008916
PMCID: PMC7467316

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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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