Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.V235A
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HJV

NM_213653.4:p.V235A

Associated Papers

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Guillem F et al.

Human Mutation, 2012

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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."