Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.G186G
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GHR

NM_000163.5:p.G186G

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Li R et al.

Frontiers in Endocrinology, 2021

33912130 (PubMed )
Supplement: Table_1.docx

Growth Hormone Receptor Mutations Related to Individual Dwarfism.

Lin S et al.

International Journal of Molecular Sciences, 2018

Genetic analysis of short children with apparent growth hormone insensitivity.

Wit JM et al.

Hormone Research in Paediatrics, 2012

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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."