Varaico: Literature-Extracted Genetic Variants

Gene:PON1
Variant:p.A201V
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PON1

NM_000446.7:p.A201V

Associated Papers

A Case-Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease.

Van Dijck E et al.

Antioxidants (basel, Switzerland), 2024

39334710 (PubMed )
Supplement: antioxidants-13-01051-s001.zip › antioxidants-3169066-supplementary.pdf

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C et al.

Acta Neurologica Belgica, 2018

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29332010 (PubMed )
Supplement: jnnp-2017-317234supp001.pdf

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

28430856 (PubMed )
Supplement: awx082_Supp.pdf

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.

Kim DS et al.

Journal of Lipid Research, 2014

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

Kim DS et al.

Journal of Lipid Research, 2013

Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Ticozzi N et al.

Annals of Neurology, 2010

Evaluation of the paraoxonases as candidate genes for stroke: Gln192Arg polymorphism in the paraoxonase 1 gene is associated with increased risk of stroke.

Ranade K et al.

Stroke, 2005

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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."