Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.E376insFs
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BSCL2

NM_001122955.4:p.E376insFs

Associated Papers

Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.

Sánchez-Iglesias S et al.

Journal of Clinical Medicine, 2021

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Sánchez-Iglesias S et al.

Neurogenetics, 2019

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."