Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.S330L
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GHRHR

NM_000823.4:p.S330L

Associated Papers

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

Ahmad S et al.

Frontiers in Endocrinology, 2023

A de novo paradigm for male infertility.

Oud MS et al.

Nature Communications, 2022

35013161 (PubMed )
Supplement: 41467_2021_27132_MOESM4_ESM.xlsx › Supplementary_Data_1

Structural basis for activation of the growth hormone-releasing hormone receptor.

Zhou F et al.

Nature Communications, 2020

Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.

Arman A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2014

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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."