Varaico: Literature-Extracted Genetic Variants

Gene:IST1
Variant:p.L195V
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IST1

NM_001270975.2:p.L195V

Associated Papers

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.

Allison R et al.

Frontiers in Neuroscience, 2019

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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."