Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.L151F
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PTRH1

NM_001002913.3:p.L151F

Associated Papers

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.

Kutluturk F et al.

Hormone Research, 2006

Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.

Tasic V et al.

Pediatric Nephrology (berlin, Germany), 2005

Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.

Wolf MT et al.

Pediatric Nephrology (berlin, Germany), 2002

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Weber S et al.

Journal of the American Society of Nephrology : Jasn, 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."