Associated Papers
A Novel Variant in an Intron Splicing Enhancer Associated with Familial Growth Hormone Deficiency.
Radovick S et al.
Hormone Research in Paediatrics, 2025
The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
Huang X et al.
Frontiers in Endocrinology, 2024
39435354 (PubMed )
Supplement: Table1.docx
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A novel GH1 mutation in a family with isolated growth hormone deficiency type II.
Gucev Z et al.
Hormone Research in Paediatrics, 2012
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
Takahashi I et al.
Clinical Genetics, 2002
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