Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.Q51*
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NPHP1

NM_001128178.3:p.Q51*

Associated Papers

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Stokman MF et al.

Pediatric Nephrology (berlin, Germany), 2018

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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."