Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.T306M
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TFAP2B

NM_003221.4:p.T306M

Associated Papers

Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.

Liu K et al.

Nucleic Acids Research, 2023

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

Zada A et al.

Frontiers in Cell and Developmental Biology, 2022

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Parikh JR et al.

Hgg Advances, 2021

34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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."