Varaico: Literature-Extracted Genetic Variants

Gene:CPT1B
Variant:p.S427C
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CPT1B

NM_152246.3:p.S427C

Associated Papers

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Polymorphisms in CPT1B and CPT2 have no significant effect on plasma carnitine levels in Japanese cancer patients.

Hishida A et al.

Nagoya Journal of Medical Science, 2019

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

Zhou S et al.

Plos One, 2015

Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.

Khan HA et al.

Gene, 2013

Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men.

Miljkovic I et al.

Obesity (silver Spring, Md.), 2009

Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians.

Robitaille J et al.

Journal of Molecular Medicine (berlin, Germany), 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."