Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.R96H
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BSCL2

NM_001130702.2:p.R96H

Associated Papers

Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Gentile L et al.

Brain Sciences, 2021

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

Sánchez-Iglesias S et al.

Journal of Clinical Medicine, 2021

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Ishihara S et al.

Journal of the Peripheral Nervous System : Jpns, 2020

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.

Lu C et al.

Journal of Molecular Medicine (berlin, Germany), 2018

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.

Hsiao CT et al.

Plos One, 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."