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Article

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific reports - 11 Jan 2021

Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla Cristina, Carracedo A

Abstract excerpt

De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different biological hierarchies (gene, biological pathway, cell and brain...

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Identifiers

PMID: 33431980
DOI: 10.1038/s41598-020-79412-w
PMCID: PMC7801448

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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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