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  • Title: Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Author: Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T.
    Journal: Clin Genet; 2017 Dec; 92(6):669-670. PubMed ID: 28960266.
    Abstract:
    Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.
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