Varaico: Literature-Extracted Genetic Variants

Gene:CYBRD1
Variant:p.Q134_L135Splc
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CYBRD1

NM_024843.4:p.Q134_L135Splc

Associated Papers

Gene symbol: SLC40A1. Disease: primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

Gene symbol: SLC40A1. Disease: Primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Zaahl MG et al.

Human Genetics, 2004

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Pointon JJ et al.

Blood Cells, Molecules & Diseases, 0

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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."