Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.V850del1
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SLC4A1

NM_000342.4:p.V850del1

Associated Papers

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Reithmeier RA et al.

Biochimica Et Biophysica Acta, 2016

dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.

Fawaz NA et al.

European Journal of Haematology, 2012

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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."