Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.S30*
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XK

NM_021083.4:p.S30*

Associated Papers

The first case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK.

Tian PC et al.

Clinical Neurology and Neurosurgery, 2019

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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."