Varaico: Literature-Extracted Genetic Variants

Gene:MNT
Variant:p.E345_D346insFs
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MNT

NM_020310.3:p.E345_D346insFs

Associated Papers

The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.

Brasell EJ et al.

Pediatric Nephrology (berlin, Germany), 2019

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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."