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Paper Details

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
21
2021
AKT, N, N-terminal SH2 domains, PI3K, PI3K complex, PIK3CA, PIK3CA-related overgrowth spectrum, PIK3R1, PIK3R1 protein products, PROS, SH2, cancer, cancer-associated genes, cancer-associated variants, capillary and lymphatic malformation, coding regions, lymphatic malformations, macrodactyly, overgrowth, overgrowth of soft tissue or bone, sandal toe gap deformity, vascular anomalies, vascular lesions, vascular malformations, venous ectasias
Author NameAffiliation
Catherine E CottrellThe Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital
Catherine E CottrellThe Ohio State University
Michael T ZimmermannMedical College of Wisconsin
Michael T ZimmermannClinical and Translational Sciences Institute, Medical College of Wisconsin
Michael T ZimmermannMedical College of Wisconsin
Vincent MagriniThe Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital
Jennifer J JohnstonCenter for Precision Health Research, National Human Genome Research Institute
Jennifer J JohnstonCenter for Precision Health Research, National Human Genome Research Institute
Katinka A Vigh-ConradOregon National Primate Research Center, Oregon Health & Science University
Robert K SempleUniversity of Edinburgh
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute
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Release 1.2