Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
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Human Genomics, 2026
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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