Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.W314*
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XK

NM_021083.4:p.W314*

Associated Papers

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.

Yu H et al.

Molecular Genetics & Genomic Medicine, 2024

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

Three new XK alleles; two associated with a McLeod RBC phenotype.

Floch A et al.

Transfusion, 2021

McLeod neuroacanthocytosis: genotype and phenotype.

Danek A et al.

Annals of Neurology, 2001

A spontaneous novel XK gene mutation in a patient with McLeod syndrome.

Supple SG et al.

British Journal of Haematology, 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."