Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.L767_P773delFs
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LIPE

NM_005357.4:p.L767_P773delFs

Associated Papers

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene.

Zhou Y et al.

Frontiers in Genetics, 2024

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Zolotov S et al.

American Journal of Medical Genetics. Part A, 2017

Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.

Albert JS et al.

The New England Journal of Medicine, 2014

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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."