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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIC

Variant:p.L314_P317del4

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CIC

NM_001386298.1:p.L314_P317del4

hg38:chr19:42272721 GCCTCCCGCAGCC>G

Associated Papers

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.

Quinaux T et al.

Cells, 2021

34572146 (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."