Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.T87A
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NPHP1

NM_001128178.3:p.T87A

Associated Papers

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG et al.

Experimental & Molecular Medicine, 2016

The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.

Seeger-Nukpezah T et al.

Plos One, 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."