Varaico: Literature-Extracted Genetic Variants

Gene:LIPC
Variant:p.G247fs
Back to variants list

LIPC

NM_000236.3:p.G247fs

Associated Papers

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nielsen JB et al.

Nature Communications, 2020

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.

Dron JS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

Buonuomo PS et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."