Varaico: Literature-Extracted Genetic Variants

Gene:LPIN1
Variant:p.R110*
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LPIN1

NM_001261428.3:p.R110*

Associated Papers

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Invernizzi F et al.

Genes, 2023

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report.

Tong K et al.

Bmc Neurology, 2021

A rare case of adult onset LPIN1 associated rhabdomyolysis.

Minton T et al.

Neuromuscular Disorders : Nmd, 2020

LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family.

Nunes D et al.

Molecular Genetics and Metabolism Reports, 2016

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.

Michot C et al.

Journal of Inherited Metabolic Disease, 2012

Association of lipin 1 gene polymorphisms with measures of energy and glucose metabolism.

Loos RJ et al.

Obesity (silver Spring, Md.), 2007

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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."