Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.K177T
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HESX1

NM_003865.3:p.K177T

Associated Papers

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

Corneli G et al.

Journal of Endocrinological Investigation, 2008

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

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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."