Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.W1199*
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SH3TC2

NM_024577.4:p.W1199*

Associated Papers

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Rehbein T et al.

Brain : a Journal of Neurology, 2023

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

Lerat J et al.

Journal of the Neurological Sciences, 2019

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J et al.

Molecular Genetics & Genomic Medicine, 2019

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