Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L13M
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C2

NM_000063.6:p.L13M

Associated Papers

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Baumgartner-Parzer S et al.

European Journal of Human Genetics : Ejhg, 2020

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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."