Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.E102_L103insFs
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HESX1

NM_003865.3:p.E102_L103insFs

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

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

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

Genetics of septo-optic dysplasia.

Kelberman D et al.

Pituitary, 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."