Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.L77delFs
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XK

NM_021083.4:p.L77delFs

Associated Papers

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

Wiethoff S et al.

Journal of the Neurological Sciences, 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."