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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G4A

Variant:p.Q513delFs

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PLA2G4A

NM_024420.3:p.Q513delFs

hg38:chr1:186956303 AG>A

Associated Papers

The natural history of infantile neuroaxonal dystrophy.

Altuame FD et al.

Orphanet Journal of Rare Diseases, 2020

32357911 (PubMed )

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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."