Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.S113T
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FOXH1

NM_003923.3:p.S113T

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

Izarzugaza JMG et al.

Genome Medicine, 2020

32859249 (PubMed )
Supplement: 13073_2020_772_MOESM1_ESM.pdf

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Töpf A et al.

Plos One, 2014

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E et al.

American Journal of Human Genetics, 2008

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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."