Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.A149Splc
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TNFRSF13B

NM_012452.3:p.A149Splc

Associated Papers

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.

Schneeberger PE et al.

Scientific Reports, 2019

31467394 (PubMed )
Supplement: 41598_2019_49032_MOESM1_ESM.pdf
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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."