Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.Q550*
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SLC4A1

NM_000342.4:p.Q550*

Associated Papers

Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Van Zwieten R et al.

American Journal of Hematology, 2013

A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.

Von Kanel T et al.

American Journal of Hematology, 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."