Varaico: Literature-Extracted Genetic Variants

Gene:HCAR1
Variant:p.D253H
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HCAR1

NM_032554.4:p.D253H

Associated Papers

Naturally occurring HCA1 missense mutations result in loss of function: potential impact on lipid deposition.

Doyle JR et al.

Journal of Lipid Research, 2013

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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."