Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Miguel Barroso-GilEric OlingerSimon A RockElisa MolinariColin G MilesJohn Andrew SayerPublished in: Molecular genetics & genomic medicine (2021)
Genotype-phenotype correlations for CC2D2A support the deleteriousness of null alleles and CC2D2A, but not CEP120, offers potential for therapeutic exon skipping approaches.
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