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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G6

Variant:p.M1del1

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PLA2G6

NM_003560.4:p.M1del1

hg38:chr22:38169423 GCAT>G

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

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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."