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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.R740H

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NPHP4

NM_015102.5:p.R740H

hg38:chr1:5890953 C>T

Associated Papers

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

Hoefele J et al.

Human Mutation, 2005

15776426 (PubMed )

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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."