Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.S135Y
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REN

NM_000537.4:p.S135Y

Associated Papers

Mechanistic insights on nsSNPs on binding site of renin and cytochrome P450 proteins: A computational perceptual study for pharmacogenomics evaluation.

Loganathan L et al.

Journal of Cellular Biochemistry, 2021

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.

Dilliott AA et al.

American Journal of Medical Genetics. Part A, 2020

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Al-Hamed MH et al.

Clinical Kidney Journal, 2016

[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].

Gubler MC et al.

Bulletin De L'academie Nationale De Medecine, 2014

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

Michaud A et al.

Human Molecular Genetics, 2011

Renin-angiotensin system in kidney development: renal tubular dysgenesis.

Gubler MC et al.

Kidney International, 2010

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.

Zingg-Schenk A et al.

European Journal of Pediatrics, 2008

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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."