Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.S74R
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VWA1

NM_022834.5:p.S74R

Associated Papers

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

Gable DL et al.

American Journal of Medical Genetics. Part A, 2022

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."