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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PFKFB3

Variant:p.L465L

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PFKFB3

NM_004566.4:p.L465L

hg38:chr10:6226243 C>T

Associated Papers

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.

Lopez-Fabuel I et al.

Nature Communications, 2022

35087090 (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."