Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.C160R
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H6PD

NM_004285.4:p.C160R

Associated Papers

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.

Mojzikova R et al.

Blood Cells, Molecules & Diseases, 2018

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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."