Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.D192delFs
Back to variants list

PNPLA2

NM_020376.4:p.D192delFs

Associated Papers

Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.

Wang S et al.

Frontiers in Genetics, 2024

39119584 (PubMed )
Supplement: Table1.XLSX › Sheet1

Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.

Samukawa M et al.

European Neurology, 2020

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

Higashi M et al.

International Journal of Cardiology, 2015

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

Kaneko K et al.

Neuromuscular Disorders : Nmd, 2014

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy.

Suzuki A et al.

Molecular Genetics and Metabolism Reports, 2014

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."