Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S1919_G1920delFs
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SPG11

NM_025137.4:p.S1919_G1920delFs

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

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
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