Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L2004V
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SPG11

NM_025137.4:p.L2004V

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s005.xlsx › Sheet1
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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."