Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.P16L
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GHRHR

NM_000823.4:p.P16L

Associated Papers

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

38310436 (PubMed )
Supplement: aim-26-346-s001.pdf

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S et al.

Frontiers in Endocrinology, 2023

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen E et al.

Human Mutation, 2019

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF et al.

Ebiomedicine, 2018

30266296 (PubMed )
Supplement: mmc1.docx
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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."