Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.V54V
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NPHP4

NM_015102.5:p.V54V

Associated Papers

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.

Zalli D et al.

Human Molecular Genetics, 2012

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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."