Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Q1068*
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SH3TC2

NM_024577.4:p.Q1068*

Associated Papers

The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan.

Ababneh NA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M et al.

Neurogenetics, 2015

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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."