RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

Care4Rare Canada deposits multi-omic data in a national platform, Genomics4RD (genomics4rd.ca), to facilitate data sharing. Phenotypic and DNA/RNA sequencing data from this family is made available through a controlled access request to Genomics4RD ([email protected]).