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Article

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Genes - 12 Apr 2021

Alvarez-Mora Maria Isabel, Corominas Jordi, Gilissen Christian, Sanchez Aurora, Madrigal Irene, Rodriguez-Revenga Laia

Abstract excerpt

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting...

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Source

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Identifiers

PMID: 33921338
DOI: 10.3390/genes12040557
PMCID: PMC8068822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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