Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.T48S
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HESX1

NM_003865.3:p.T48S

Associated Papers

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.

Yang Y et al.

Clinical Endocrinology, 2013

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Turton JP et al.

Clinical Endocrinology, 2005

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Deladoëy J et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."