Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.Q2154*
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SPTAN1

NM_001130438.3:p.Q2154*

Associated Papers

A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family.

Dong HL et al.

Brain : a Journal of Neurology, 2021

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Beijer D et al.

Brain : a Journal of Neurology, 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."