Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.S508fs
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LIPE

NM_005357.4:p.S508fs

Associated Papers

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

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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."