Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.E177K
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NPHP1

NM_001128178.3:p.E177K

Associated Papers

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Leggatt G et al.

Scientific Reports, 2023

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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."