Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.V201Splc
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TFAP2B

NM_003221.4:p.V201Splc

Associated Papers

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.

Zada A et al.

Frontiers in Cell and Developmental Biology, 2022

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.

Timberlake AT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

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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."