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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Antaki, Danny et al.
eScholarship · Papers
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31-biological-sciences-for-2020
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consist
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