Varaico: Literature-Extracted Genetic Variants

Gene:CSN2
Variant:p.P206H
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CSN2

NM_001891.4:p.P206H

Associated Papers

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

Ward AC et al.

The Journal of Experimental Medicine, 1999

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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."