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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPARGC1A

Variant:p.C6S

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PPARGC1A

NM_013261.5:p.C6S

hg38:chr4:23889942 A>T

Associated Papers

Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk.

Leal AF et al.

Scientific Reports, 2025

41034280 (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."