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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G6

Variant:p.G340_N342delFs

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PLA2G6

NM_003560.4:p.G340_N342delFs

hg38:chr22:38132882 GTTGGCCC>G

Associated Papers

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Dehnavi AZ et al.

Orphanet Journal of Rare Diseases, 2023

37403138 (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."