Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.V42_L43insCTG
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PCSK9

NM_174936.4:p.V42_L43insCTG

Associated Papers

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Abdul Murad NA et al.

Genes, 2023

36980993 (PubMed )
Supplement: genes-14-00721-s001.zip › genes-2217247-supplementary.pdf

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › INDEL_merged_freq._deleterious

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L et al.

Atherosclerosis, 2007

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Humphries SE et al.

Journal of Medical Genetics, 2006

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Reddy LL et al.

Indian Heart Journal, 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."