Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.R82Splc
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XK

NM_021083.4:p.R82Splc

Associated Papers

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

Garnier M et al.

Neuromuscular Disorders : Nmd, 2025

Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.

Arnaud L et al.

Transfusion, 2009

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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."