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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and

Abbe Lai1, Aubrie Soucy2, Christelle Moufawad El Achkar3

  • 1Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|August 23, 2022
PubMed
Abstract

Keywords:
AKT3MTORPIK3CAPIK3R2Somatic mosaicism

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