Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.S210_V211Splc
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BSCL2

NM_001122955.4:p.S210_V211Splc

Associated Papers

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

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

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU et al.

Diagnostic Pathology, 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."