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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

BACKGROUND: Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have reve...

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Bibliografiset tiedot
Julkaisussa:Mol Autism
Päätekijät: Griswold, Anthony J., Dueker, Nicole D., Van Booven, Derek, Rantus, Joseph A., Jaworski, James M., Slifer, Susan H., Schmidt, Michael A., Hulme, William, Konidari, Ioanna, Whitehead, Patrice L., Cuccaro, Michael L., Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Hussman, John P., Pericak-Vance, Margaret A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4504419/
https://ncbi.nlm.nih.gov/pubmed/26185613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-015-0034-z
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