Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

Molecular Autism

Volumn 4, Issue 1, 2013, Pages

  Bahl, Samira ^a   Chiang, Colby ^a   Beauchamp, Roberta L ^a   Neale, Benjamin M ^a,b   Daly, Mark J ^a,b   Gusella, James F ^a,b,c   Talkowski, Michael E ^a,b   Ramesh, Vijaya ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Autism spectrum disorder; Mammalian target of rapamycin; Next generation sequencing; Rare variants; Tuberous sclerosis complex

Indexed keywords

DNA; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; PAM PROTEIN; RNA; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1; TUBEROUS SCLEROSIS COMPLEX 2; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYMPHOBLAST; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATORY MECHANISM; SYNAPSE;

MAMMALIA;

EID: 84875744099     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-4-5     Document Type: Article

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