Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.M260delFs
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TCF12

NM_207037.2:p.M260delFs

Associated Papers

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

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

Davis EE et al.

Human Molecular Genetics, 2020

Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.

Yilmaz E et al.

American Journal of Medical Genetics. Part A, 2019

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Sharma VP et al.

Nature Genetics, 2013

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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."