Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.Y316delFs
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CAVIN1

NM_012232.6:p.Y316delFs

Associated Papers

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Akinci G et al.

American Journal of Medical Genetics. Part A, 2024

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

Mancioppi V et al.

Frontiers in Endocrinology, 2023

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

Ardissone A et al.

Bmc Medical Genetics, 2013

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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."