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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPARGC1A

Variant:p.L453F

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PPARGC1A

NM_013261.5:p.L453F

hg38:chr4:23814126 G>A

Associated Papers

Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

Pan SW et al.

Scientific Reports, 2024

38834813 (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."