Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.Q119_I120Splc
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HESX1

NM_003865.3:p.Q119_I120Splc

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

A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.

Vivenza D et al.

European Journal of Endocrinology, 2011

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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."