Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.A142T
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HESX1

NM_003865.3:p.A142T

Associated Papers

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z

Orvosi Hetilap, 2011

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

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."