Varaico: Literature-Extracted Genetic Variants

Gene:FERMT2
Variant:p.T190S
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FERMT2

NM_006832.3:p.T190S

Associated Papers

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC et al.

Human Molecular Genetics, 2019

31067316 (PubMed )
Supplement: suppl_figstables_goos-etal_2019-01-28_ddz072.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."