Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.F57_E58Splc
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GH1

NM_000515.5:p.F57_E58Splc

Associated Papers

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Kempers MJ et al.

Hormone Research in Paediatrics, 2013

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS et al.

Human Mutation, 2003

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Fofanova OV et al.

Hormones (athens, Greece), 0

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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."