Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.V274I
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SPG11

NM_025137.4:p.V274I

Associated Papers

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Genetic analysis of ALS cases in the isolated island population of Malta.

Borg R et al.

European Journal of Human Genetics : Ejhg, 2021

33414559 (PubMed )
Supplement: 41431_2020_767_MOESM1_ESM.pdf

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s002.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."