Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.D444E
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SPAST

NM_014946.4:p.D444E

Associated Papers

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

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Clinical features of hereditary spastic paraplegia due to spastin mutation.

McDermott CJ et al.

Neurology, 2006

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."