Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.A878D
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SH3TC2

NM_024577.4:p.A878D

Associated Papers

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.

Kontogeorgiou Z et al.

Journal of the Peripheral Nervous System : Jpns, 2019

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J et al.

Brain : a Journal of Neurology, 2011

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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."