Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.A287S
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HSD17B6

NM_003725.4:p.A287S

Associated Papers

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.

Bereta G et al.

Biochemistry, 2008

Tryptophan-scanning mutagenesis in the alphaM3 transmembrane domain of the muscle-type acetylcholine receptor. A spring model revealed.

Otero-Cruz JD et al.

The Journal of Biological Chemistry, 2007

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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."