Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A34delFs
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SDS

NM_006843.3:p.A34delFs

Associated Papers

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.

Wang Q et al.

Frontiers in Neuroscience, 2022

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.

Baban A et al.

American Journal of Medical Genetics. Part A, 2014

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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."