Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.A940_Q941del2
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NPHP4

NM_015102.5:p.A940_Q941del2

Associated Papers

Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression.

Yamada H et al.

Journal of Genetics, 2005

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hoefele J et al.

Human Mutation, 2005

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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."