Varaico: Literature-Extracted Genetic Variants

Gene:PNMT
Variant:p.A175T
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PNMT

NM_002686.4:p.A175T

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6

Polymorphisms and disease: hotspots of inactivation in methyltransferases.

Rutherford K et al.

Trends in Biochemical Sciences, 2010

Human phenylethanolamine N-methyltransferase genetic polymorphisms and exercise-induced epinephrine release.

Ji Y et al.

Physiological Genomics, 2008

Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics.

Ji Y et al.

Journal of Neurochemistry, 2005

Identification of 197 genetic variations in six human methyltranferase genes in the Japanese population.

Saito S et al.

Journal of Human Genetics, 2001

Insights into S-adenosyl-l-methionine (SAM)-dependent methyltransferase related diseases and genetic polymorphisms.

Li J et al.

Mutation Research. Reviews in Mutation Research, 0

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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."