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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPARD

Variant:p.R47Q

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PPARD

NM_006238.5:p.R47Q

hg38:chr6:35420136 G>A

Associated Papers

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Jimenez Y et al.

Genes, 2022

35741789 (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."