Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.E795K
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SPTBN2

NM_006946.4:p.E795K

Associated Papers

Adult-onset spastic paraplegia associated with a novel SPTBN2 missense heterozygous variant.

Palumbo F et al.

Acta Neurologica Belgica, 2024

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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."