Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.R603Q
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TCF12

NM_207037.2:p.R603Q

Associated Papers

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Scott TM et al.

Journal of Medical Genetics, 2022

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Chen J et al.

Frontiers in Genetics, 2022

36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS2

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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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."