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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD5

Variant:p.L228*

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ABHD5

NM_016006.6:p.L228*

hg38:chr3:43714968 T>A

Associated Papers

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.

Mangukiya NP et al.

Cureus, 2023

37746493 (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."