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Article

A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.

Human molecular genetics - 6 Jul 2024

Bhattacharya Aniket, Parlanti Paola, Cavallo Luca, Farrow Edward, Spivey Tyler, Renieri Alessandra, Mari Francesca, Manzini M Chiara

Abstract excerpt

Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous with hundreds of identified risk genes, most affecting only a few patients. Novel missense variants in these genes are being discovered as clinical exome sequencing is now routinely integrated into diagnosis, yet most of them are annotated as variants of uncertain significance (VUS). VUSs are a major roadblock in using...

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Identifiers

PMID: 38652285
DOI: 10.1093/hmg/ddae070

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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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