Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.E180*
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BSCL2

NM_001122955.4:p.E180*

Associated Papers

Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.

Wang Y et al.

Frontiers in Genetics, 2025

Role of Seipin in Human Diseases and Experimental Animal Models.

Li Y et al.

Biomolecules, 2022

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

Ruiz-Riquelme A et al.

Neurobiology of Disease, 2015

A new seipin-associated neurodegenerative syndrome.

Guillén-Navarro E et al.

Journal of 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."