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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
UploadGenomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Download from www.nature.comDiscovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
UploadCenters for Mendelian Genomics: A decade of facilitating gene discovery
UploadPathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
UploadRecurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Uploadmatchbox: An open-source tool for patient matching via the Matchmaker Exchange
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