Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.R145_R146delFs
Back to variants list

TFAP2B

NM_003221.4:p.R145_R146delFs

Associated Papers

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

Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation.

Wang J et al.

The Journal of Surgical Research, 2018

Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.

Ji W et al.

The Journal of Surgical Research, 2014

Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.

Chen YW et al.

Pediatric Cardiology, 2011

[Mutation of TFAP-2B gene in patients with patent ductus arteriosus].

Chen YW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."