Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.R109Q
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HESX1

NM_003865.3:p.R109Q

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Toward clinical exomes in diagnostics and management of male infertility.

Lillepea K et al.

American Journal of Human Genetics, 2024

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37154149 (PubMed )
Supplement: mmc2.pdf

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.

Choi JH et al.

Yonsei Medical Journal, 2017

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M et al.

Endocrine Journal, 2016

An outline of inherited disorders of the thyroid hormone generating system.

Knobel M et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

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