Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.R40delFs
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SPG21

NM_016630.7:p.R40delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG21

Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.

Scarlato M et al.

Journal of Neurology, 2017

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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."