Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.K90_N91Splc
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FDXR

NM_024417.5:p.K90_N91Splc

Associated Papers

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Kharrat M et al.

Steroids, 2019

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Zakharova FM et al.

Bmc Medical Genetics, 2005

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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."