Varaico: Literature-Extracted Genetic Variants

Gene:UBP1
Variant:p.K290delFs
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UBP1

NM_014517.5:p.K290delFs

Associated Papers

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.

Klämbt V et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

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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."