Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.I1503_K1505del3
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CC2D2A

NM_001378615.1:p.I1503_K1505del3

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

33486889 (PubMed )
Supplement: MGG3-9-e1603-s001.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."