Varaico: Literature-Extracted Genetic Variants

Gene:BAAT
Variant:p.R20Q
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BAAT

NM_001701.4:p.R20Q

Associated Papers

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.

Styles NA et al.

Journal of Lipid Research, 2016

Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.

Tougou K et al.

Drug Metabolism and Pharmacokinetics, 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."