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Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

Hum Mutat · 2017 · PMC5518181 · PMID 28503910

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After exclusion of parents whose children harbored reported de novo LoF germline mutations (Iossifov et al., 2014 ) or de novo small deletions, we observed that fathers transmitting missense/LoF pSNMs to probands also tend to have higher social responsiveness scale for adults (SRS‐A) scores ( P = 0.173, one‐sided Wilcoxon rank sum test), although this effect did not reach statistical significance, probably due to the small sample size of the analysis (Supp.

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