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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THOC2

Variant:p.D44Splc

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THOC2

NM_001081550.2:p.D44Splc

hg38:chrX:123706951 T>C

Associated Papers

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

Kumar R et al.

Frontiers in Molecular Neuroscience, 2020

32116545 (PubMed )

Supplement: Data_Sheet_1.docx

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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."