Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L461P
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SPAST

NM_014946.4:p.L461P

Associated Papers

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY et al.

Bmc Neurology, 2014

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2012

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C et al.

Journal of Medical Genetics, 2006

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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."