Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.K45delFs
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CAVIN1

NM_012232.6:p.K45delFs

Associated Papers

Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.

Sorkina E et al.

Clinical Diabetes and Endocrinology, 2020

Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Patni N et al.

Nature Reviews. Endocrinology, 2015

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

Shastry S et al.

American Journal of Medical Genetics. Part A, 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."