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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLA2G6

Variant:p.D690_R691del1

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PLA2G6

NM_001004426.3:p.D690_R691del1

hg38:chr22:38112545 CCGG>C

Associated Papers

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Farrar MA et al.

Brain : a Journal of Neurology, 2016

27497490 (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."