Varaico: Literature-Extracted Genetic Variants

Gene:CYP39A1
Variant:p.R103H
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CYP39A1

NM_016593.5:p.R103H

Associated Papers

Evaluation of pharmacogenomics and hepatic nuclear imaging-related covariates by population pharmacokinetic models of irinotecan and its metabolites.

Liu Z et al.

European Journal of Clinical Pharmacology, 2022

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Li Z et al.

Jama, 2021

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels.

Stiles AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."