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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.Y667fs

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NPHP4

NM_015102.5:p.Y667fs

hg38:chr1:5904761 ATA>N

Associated Papers

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

Hudson R et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2020

31810733 (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."