Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL5
Variant:p.F349L
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ANGPTL5

NM_178127.5:p.F349L

Associated Papers

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Shimazaki H et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2014

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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."