Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.L726P
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CC2D2A

NM_001378615.1:p.L726P

Associated Papers

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.

Barroso-Gil M et al.

Molecular Genetics & Genomic Medicine, 2021

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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