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Article

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.

Molecular autism - 6 Oct 2021

Mahjani Behrang, De Rubeis Silvia, Gustavsson Mahjani Christina, Mulhern Maureen, Xu Xinyi, Klei Lambertus, Satterstrom F Kyle, Fu Jack, Talkowski Michael E, Reichenberg Abraham, Sandin Sven, Hultman Christina M, Grice Dorothy E, Roeder Kathryn, Devlin Bernie, Buxbaum Joseph D

Abstract excerpt

BACKGROUND: The Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cognitive levels and delayed age at walking, when compared to ASD participants without pdSNV. Here, we made use of a Swedish sample of individuals with ASD (called PAGES, for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34615535
DOI: 10.1186/s13229-021-00465-3
PMCID: PMC8495954

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