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Article

Patterns of de novo tandem repeat mutations and their role in autism.

Nature - 1 Jan 2021

Mitra Ileena, Huang Bonnie, Mousavi Nima, Ma Nichole, Lamkin Michael, Yanicky Richard, Shleizer-Burko Sharona, Lohmueller Kirk E, Gymrek Melissa

Abstract excerpt

Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by deficits in communication and social interaction and restrictive or repetitive behaviours1,2. Family studies demonstrate that ASD has a substantial genetic basis with contributions both from inherited and de novo variants3,4. It has been estimated that de novo mutations may contribute to 30% of all simplex cases, in which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33442040
DOI: 10.1038/s41586-020-03078-7
PMCID: PMC7810352

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