Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.L71P
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VWA1

NM_022834.5:p.L71P

Associated Papers

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Nagy S et al.

Brain Communications, 2024

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

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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."