Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.Q87*
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CAVIN1

NM_012232.6:p.Q87*

Associated Papers

Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.

Bilgeç N et al.

Molecular Syndromology, 2025

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

Akinci G et al.

American Journal of Medical Genetics. Part A, 2024

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

Yildirim Simsir I et al.

Diabetes, Obesity & Metabolism, 2023

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

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

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Akinci G et al.

Neuromuscular Disorders : Nmd, 2017

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

Akinci G et al.

European Journal of Medical Genetics, 2016

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol RJ et al.

European Journal of Pediatrics, 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."