Varaico: Literature-Extracted Genetic Variants

Gene:CAV1
Variant:p.I134fs
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CAV1

NM_001753.5:p.I134fs

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

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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."