Publication | Open Access

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Systems BiologySomatic VariantVariant InterpretationNext-generation SequencingGeneticsUnclassified VariantsMolecular GeneticsDisease Gene IdentificationGenomicsCol11a1 IdentifiesMedicineSplicing VariantIntronic Pathogenic Mutations