Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.I23T
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HESX1

NM_003865.3:p.I23T

Associated Papers

Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant.

Lei N et al.

Endocrine, 2025

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL et al.

Clinical Endocrinology, 2017

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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."