Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.K78E
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FOXH1

NM_003923.3:p.K78E

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

Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing.

Ye J et al.

Genomics, 2023

Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.

Wei W et al.

Clinical Genetics, 2020

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