Associated Papers
Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.
Shchagina O et al.
Frontiers in Genetics, 2024
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Shchagina O et al.
International Journal of Molecular Sciences, 2023
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP et al.
Nucleic Acids Research, 2018
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G et al.
Journal of the Peripheral Nervous System : Jpns, 2016
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
Laššuthová P et al.
Journal of Neurogenetics, 2012
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P et al.
Clinical Genetics, 2011
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