Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.H131R
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BSCL2

NM_001122955.4:p.H131R

Associated Papers

A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.

Saito S et al.

Elife, 2022

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA et al.

American Journal of Medical Genetics. Part A, 2016

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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."