Varaico: Literature-Extracted Genetic Variants

Gene:RBM5
Variant:p.F142insFs
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RBM5

NM_005778.4:p.F142insFs

Associated Papers

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.

van Wijk R et al.

Blood, 2003

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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."