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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DECR1

Variant:p.K110_V111Splc

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DECR1

NM_001359.2:p.K110_V111Splc

hg38:chr8:90018969 A>T

Associated Papers

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.

Kohlmaier B et al.

International Journal of Obesity (2005), 2024

39277655 (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."