Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S374C
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SPG11

NM_025137.4:p.S374C

Associated Papers

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

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.

Lu C et al.

Journal of Molecular Medicine (berlin, Germany), 2018

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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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."