Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.M1T
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HESX1

NM_003865.3:p.M1T

Associated Papers

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Ribeiro AC et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Chen JM et al.

Current Genomics, 2020

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

Fang Q et al.

Endocrine Reviews, 2016

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular 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."