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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIC

Variant:p.A173_E176delFs

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CIC

NM_001386298.1:p.A173_E176delFs

hg38:chr19:42272298 CGGCGGACCTG>C

Associated Papers

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

32340404 (PubMed )

Supplement: biomolecules-10-00655-s001.pdf

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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."