Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.G77D
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HJV

NM_213653.4:p.G77D

Associated Papers

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

Muckenthaler L et al.

Blood, 2022

34875027 (PubMed )
Supplement: mmc1.pdf
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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."