Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.S171*
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CAVIN1

NM_012232.6:p.S171*

Associated Papers

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

Dwianingsih EK et al.

Molecular Genetics and Metabolism, 0

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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."