Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.W134Splc
Back to variants list

TBX4

NM_001321120.2:p.W134Splc

Associated Papers

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Moresco G et al.

Genes & Genomics, 2025

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Bianco AM et al.

Genes, 2022

36360195 (PubMed )
Supplement: genes-13-01958-s001.zip › genes-1942838-supplementary.pdf

Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer.

Li LY et al.

Cancer Research and Treatment, 2019

30428638 (PubMed )
Supplement: crt-2018-405-suppl9.pdf

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
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."