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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADL

Variant:p.R50P

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ACADL

NM_001608.4:p.R50P

hg38:chr2:210220731 C>G

Associated Papers

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

Mohsen AW et al.

Biochemistry, 1998

9665741 (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."