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

ConclusionGenotype ‐phenotype correlations forCC2D2A support the deleteriousness of null alleles andCC2D2A, but notCEP120, offers potential for therapeutic exon skipping approaches.

Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Miguel Barroso ‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer Tags: ORIGINAL ARTICLE Source Type: research