Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.Q153P
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NPHP3

NM_153240.5:p.Q153P

Associated Papers

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf

Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case.

Zhang H et al.

Pediatric Transplantation, 2018

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Sun L et al.

Nephrology (carlton, Vic.), 2016

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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."