Cell · 2024 · 55 citations · 84 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsDisease SubtypingGenetic DisordersRare Disease GeneticsRare Disease GenomicsVariant AnalysisVariant DetectionDisease-associated Untranslated Region VariantsDisease-causing VariantsPathogenic Copy Number VariantsPathogenic Variant DetectionPathogenicity Assessment
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