Exome & General Genetics

Diagnostic exome sequencing (DES) of a female patient with features of Autism Spectrum Disorder (ASD) identifies a novel gene, RYR3, which lies at the human 15q14 schizophrenia/autism susceptibility locus

  • Authors: Cameron Mroske; Carrie Cain; Kelly Farwell; Dima El-Khechen; Robert Huether; Sha Tang; Patricia Wheeler
  • Conference: ACMG 2015
  • Date: Tuesday, Mar 24, 2015 12:00am - 12:00pm

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