Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.R288Q
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CPT1A

NM_001876.4:p.R288Q

Associated Papers

Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.

Horjus J et al.

International Journal of Molecular Sciences, 2022

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

A Metabolic Basis for Endothelial-to-Mesenchymal Transition.

Xiong J et al.

Molecular Cell, 2018

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
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