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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADVL

Variant:p.R38fs

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ACADVL

NM_000018.4:p.R38fs

hg38:chr17:7220171 CGG>N

Associated Papers

Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.

Kim YM et al.

Medicine, 2018

29768383 (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."