Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.V652V
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WASHC5

NM_014846.4:p.V652V

Associated Papers

SPG8 mutations in Italian families: clinical data and literature review.

Ginanneschi F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

Bettencourt C et al.

Journal of Neurology, 2013

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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."