Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.G1830D
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SPG11

NM_025137.4:p.G1830D

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.

Yang HW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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