Varaico: Literature-Extracted Genetic Variants

Gene:PIP
Variant:p.Q29*
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PIP

NM_002652.3:p.Q29*

Associated Papers

NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.

Kurtz I

Pflugers Archiv : European Journal of Physiology, 2014

Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties.

Kurtz I et al.

Frontiers in Physiology, 2013

Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.

Kurtz I et al.

Current Opinion in Nephrology and Hypertension, 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."