Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL3
Variant:p.G439_Y442del4
Back to variants list

ANGPTL3

NM_014495.4:p.G439_Y442del4

Associated Papers

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.

Schwantes-An TH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2026

41514510 (PubMed )
Supplement: LIV-46-0-s001.xlsx › Table_S1

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

The first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants in ANGPTL3: Case report.

Tada H et al.

Heliyon, 2024

Recent developments in the genetics of LDL deficiency.

Hooper AJ et al.

Current Opinion in Lipidology, 2013

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

Pisciotta L et al.

Circulation. Cardiovascular Genetics, 2012

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."