Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.R222G
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XK

NM_021083.4:p.R222G

Associated Papers

A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report.

Ying Y et al.

Frontiers in Genetics, 2023

A novel XK gene mutation in a Taiwanese family with McLeod syndrome.

Chen PY et al.

Journal of the Neurological Sciences, 2014

McLeod myopathy revisited: more neurogenic and less benign.

Hewer E et al.

Brain : a Journal of Neurology, 2007

McLeod phenotype without the McLeod syndrome.

Walker RH et al.

Transfusion, 2007

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.

Jung HH et al.

Transfusion, 2003

Point mutations causing the McLeod phenotype.

Russo DC et al.

Transfusion, 2002

A Case of McLeod Syndrome with A Novel XK Missense Mutation.

Komiya H et al.

Movement Disorders Clinical Practice, 0

VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics.

Peikert K et al.

Contact (thousand Oaks (ventura County, Calif.)), 0

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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."