Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.L27*
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NPHP1

NM_001128178.3:p.L27*

Associated Papers

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.

Caridi G et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

Hildebrandt F et al.

Kidney International, 2001

Juvenile nephronophthisis and related variants: clinical features and molecular approach.

Caridi G et al.

Contributions to Nephrology, 2001

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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."