Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1921fs
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SPG11

NM_025137.4:p.E1921fs

Associated Papers

Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48.

Afzal MA et al.

Ebiomedicine, 2025

41138668 (PubMed )
Supplement: mmc2.pdf

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
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