Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.M489_V490Splc
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TCF12

NM_207037.2:p.M489_V490Splc

Associated Papers

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Yu JW et al.

Jci Insight, 2025

39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Davis EE et al.

Human Molecular Genetics, 2020

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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."