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Paper Details

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
103
2018
Author NameAffiliation
Danielle R Azzariti
Danielle R AzzaritiBroad Institute of MIT and Harvard
Kristy LeeUniversity of North Carolina
Birgit Funke
Birgit FunkeCenter for Genomic Medicine, Massachusetts General Hospital
Birgit Funke
Birgit Funke
Birgit Funke
Birgit FunkeCenter for Genomic Medicine, Massachusetts General Hospital
Christa Lese MartinAutism & Developmental Medicine Institute
Sharon E PlonBaylor College of Medicine
Erin M RamosNational Human Genome Research Institute (NHGRI)
Heidi L Rehm
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L Rehm
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard
Jonathan S BergUniversity of North Carolina
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