Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.T666I
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PLA2G6

NM_003560.4:p.T666I

Associated Papers

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Kurtovic-Kozaric A et al.

Orphanet Journal of Rare Diseases, 2024

39425167 (PubMed )
Supplement: 13023_2024_3275_MOESM1_ESM.xlsx › Sheet1

The natural history of infantile neuroaxonal dystrophy.

Altuame FD et al.

Orphanet Journal of Rare Diseases, 2020

pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.

Zhou C et al.

Genome Medicine, 2019

31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.C
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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."