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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPF3B

Variant:p.T198fs

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UPF3B

NM_080632.3:p.T198fs

hg38:chrX:119841767 GGT>N

Associated Papers

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )

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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."