Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.S67T
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HESX1

NM_003865.3:p.S67T

Associated Papers

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Kardelen AD et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

Brauner R et al.

Plos One, 2023

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF et al.

Ebiomedicine, 2018

30266296 (PubMed )
Supplement: mmc1.docx

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

Reynaud R et al.

European Journal of Endocrinology, 2011

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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."