Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.A507fs
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LIPE

NM_005357.4:p.A507fs

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

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.

Araújo de Melo Campos JT et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.

Sollier C et al.

European Journal of Endocrinology, 2021

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