Varaico: Literature-Extracted Genetic Variants

Gene:THOC2
Variant:p.C981Y
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THOC2

NM_001081550.2:p.C981Y

Associated Papers

Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.

Tamhankar V et al.

Cureus, 2021

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar R et al.

Frontiers in Molecular Neuroscience, 2020

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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."