Varaico: Literature-Extracted Genetic Variants

Gene:CEP120
Variant:p.F194S
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CEP120

NM_001166226.2:p.F194S

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

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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."