Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.E327K
Back to variants list

XK

NM_021083.4:p.E327K

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 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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."