Varaico: Literature-Extracted Genetic Variants

Gene:THOC2
Variant:p.H26Y
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THOC2

NM_001081550.2:p.H26Y

Associated Papers

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava C et al.

Nature Genetics, 2025

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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."