Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.Q299*
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XK

NM_021083.4:p.Q299*

Associated Papers

Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.

Braun AA et al.

Orphanet Journal of Rare Diseases, 2024

Multisystem pathology in McLeod syndrome.

Schon KR et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.

Gassner C et al.

Transfusion, 2017

Cardiac abnormalities in McLeod syndrome.

Oechslin E et al.

International Journal of Cardiology, 2009

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

Jung HH et al.

Transfusion, 2003

Malignant McLeod myopathy.

Jung HH et al.

Muscle & Nerve, 2002

McLeod neuroacanthocytosis: genotype and phenotype.

Danek A et al.

Annals of Neurology, 2001

Kell and XK immunohistochemistry in McLeod myopathy.

Jung HH et al.

Muscle & Nerve, 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."