Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.L173L
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CYBB

NM_000397.4:p.L173L

Associated Papers

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Tajouri A et al.

Human Mutation, 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."