Varaico: Literature-Extracted Genetic Variants

Gene:STOM
Variant:p.P47S
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STOM

NM_004099.6:p.P47S

Associated Papers

Structure-function analysis of human stomatin: A mutation study.

Rungaldier S et al.

Plos One, 2017

A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin.

Schurek EM et al.

The Journal of Biological Chemistry, 2014

Characterization of a short isoform of the kidney protein podocin in human kidney.

Völker LA et al.

Bmc Nephrology, 2013

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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."