Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A4
Variant:p.E122G
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SLC4A4

NM_001098484.3:p.E122G

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

Molecular mechanisms of renal and extrarenal manifestations caused by inactivation of the electrogenic Na(+)-HCO3 (-) cotransporter NBCe1.

Seki G et al.

Frontiers in Physiology, 2013

Functional characterization of nonsynonymous single nucleotide polymorphisms in the electrogenic Na+-HCO3- cotransporter NBCe1A.

Yamazaki O et al.

Pflugers Archiv : European Journal of Physiology, 2011

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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."