Varaico: Literature-Extracted Genetic Variants

Gene:TBATA
Variant:p.R103M
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TBATA

NM_001318241.2:p.R103M

Associated Papers

A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.

Gruss MJ et al.

Genetics, 2023

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

29643386 (PubMed )
Supplement: 41467_2018_3720_MOESM2_ESM.xlsx › WES-mutations.txt
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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."