Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.H938Y
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SH3TC2

NM_024577.4:p.H938Y

Associated Papers

Diagnostic Neuromuscular Ultrasound to Confirm Clinical Significance of a Genetic Variant for Charcot-Marie-Tooth Type 4C: A Case Report.

Meiling JB et al.

American Journal of Physical Medicine & Rehabilitation, 2024

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 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."