Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.V147Splc
Back to variants list

GHR

NM_000163.5:p.V147Splc

Associated Papers

Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort Study.

Alashwal AA et al.

Hormone Research in Paediatrics, 2024

Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.

Spurná Z et al.

Gene, 2024

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Al-Ashwal AA et al.

Hormone Research in Paediatrics, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."