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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTNS

Variant:p.V17insFs

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CTNS

NM_004937.3:p.V17insFs

hg38:chr17:3640255 G>GT

Associated Papers

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Soliman NA et al.

Jimd Reports, 2014

24464559 (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."