Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.G21fs
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VWA1

NM_022834.5:p.G21fs

Associated Papers

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Deschauer M et al.

Brain : a Journal of Neurology, 2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta AT et al.

Brain : a Journal of Neurology, 2021

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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."