Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.M22V
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SPG11

NM_025137.4:p.M22V

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes
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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."