Varaico: Literature-Extracted Genetic Variants

Gene:EPB42
Variant:p.S613F
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EPB42

NM_001114134.2:p.S613F

Associated Papers

Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.

Cordat E

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Yenchitsomanus PT et al.

Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.

Shayakul C et al.

Clinical and Experimental Nephrology, 2004

Glycophorin A: Band 3 aid.

Williamson RC et al.

Blood Cells, Molecules & Diseases, 0

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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."