Varaico: Literature-Extracted Genetic Variants

Gene:LPIN1
Variant:p.Y19*
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LPIN1

NM_001349206.2:p.Y19*

Associated Papers

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

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

Nunes D et al.

Molecular Genetics and Metabolism Reports, 2016

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

Michot C et al.

Journal of Inherited Metabolic Disease, 2012

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.

Michot C et al.

Human Mutation, 2010

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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."