Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.Q30delFs
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CAVIN1

NM_012232.6:p.Q30delFs

Associated Papers

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

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Garg A et al.

American Journal of Medical Genetics. Part A, 2015

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K et al.

Bioscience Reports, 2014

Central players in inherited lipodystrophies.

Jeninga EH et al.

Trends in Endocrinology and Metabolism: Tem, 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."