Genetic landscape of sh3tc2 variants in russian patients with charcot–marie–tooth disease

HIGHLIGHTS

  • Who: Jared C. Roach and colleagues from the Institute for Systems Biology (ISB), United States Federal University of São Paulo, Brazil have published the paper: Genetic Landscape of SH3TC2 variants in Russian patients with Charcot - Marie Tooth disease, in the Journal: (JOURNAL) of 04/02/2024
  • How: Methods Within a cohort comprising 700 unrelated Russian patients diagnosed with Charcot-Marie-Tooth disease the authors conducted a gene panel analysis encompassing 21 genes associated with hereditary neuropathies.

SUMMARY

    Charcot-Marie-Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one . . .

     

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