Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.R133*
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XK

NM_021083.4:p.R133*

Associated Papers

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

Walker RH et al.

Frontiers in Neuroscience, 2024

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

Paucar M et al.

Frontiers in Neuroscience, 2024

Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.

Torres V et al.

Movement Disorders Clinical Practice, 2022

A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.

Murakami T et al.

Bmc Neurology, 2019

Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.

Urata Y et al.

Neurology. Genetics, 2019

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Dulski J et al.

Clinical Neurology and Neurosurgery, 2016

The McLeod syndrome without acanthocytes.

Klempír J et al.

Parkinsonism & Related Disorders, 2008

McLeod neuroacanthocytosis: genotype and phenotype.

Danek A et al.

Annals of Neurology, 2001

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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."