Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.R236C
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TFAP2B

NM_003221.4:p.R236C

Associated Papers

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Zhou R et al.

Iscience, 2022

36117989 (PubMed )
Supplement: mmc5.xlsx › DBD_missense_mutations

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

Zada A et al.

Frontiers in Cell and Developmental Biology, 2022

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL et al.

American Journal of Medical Genetics. Part A, 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."