Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.K176T
Back to variants list

HESX1

NM_003865.3:p.K176T

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

Identification of HESX1 mutations in Kallmann syndrome.

Newbern K et al.

Fertility and Sterility, 2013

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular Endocrinology, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

DNMT1 interacts with the developmental transcriptional repressor HESX1.

Sajedi E et al.

Biochimica Et Biophysica Acta, 2008

Septo-optic dysplasia - novel insights into the aetiology.

Kelberman D et al.

Hormone Research, 2008

Hypothalamic and pituitary development: novel insights into the aetiology.

Kelberman D et al.

European Journal of Endocrinology, 2007

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."