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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.L939*

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NPHP4

NM_015102.5:p.L939*

hg38:chr1:5877094 A>T

Associated Papers

Clinical and genetic characteristics of Japanese nephronophthisis patients.

Sugimoto K et al.

Clinical and Experimental Nephrology, 2016

26499951 (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."