Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.K4Fs
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SOD1

NM_000454.5:p.K4Fs

Associated Papers

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

Manning LK et al.

Animals : an Open Access Journal From Mdpi, 2024

39765607 (PubMed )
Supplement: animals-14-03703-s001.zip › Supplementary_Tables_and_Figures.xlsx › Table_S4

A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.

Mandigers PJJ et al.

Human Genetics, 2021

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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."