Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.E334_G335Splc
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FDXR

NM_024417.5:p.E334_G335Splc

Associated Papers

FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.

Wei X et al.

Experimental Eye Research, 2023

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."