Varaico: Literature-Extracted Genetic Variants

Gene:LPIN1
Variant:p.E215*
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LPIN1

NM_001349206.2:p.E215*

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

Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis.

Jaradat SA et al.

Meta Gene, 2016

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Zeharia A et al.

American Journal of Human Genetics, 2008

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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."