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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC51

Variant:p.K101_V102Fs

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CCDC51

NM_001256964.2:p.K101_V102Fs

hg38:chr3:48434824 AC>TATCTTCATATCTCCA

Associated Papers

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Zeitz C et al.

International Journal of Molecular Sciences, 2021

34360642 (PubMed )

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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."