Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.L180P
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NPHP1

NM_001128178.3:p.L180P

Associated Papers

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.

Delous M et al.

Human Molecular Genetics, 2009

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.

le Maire A et al.

Proteins, 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."