Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R139H
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AVPR2

NM_000054.7:p.R139H

Associated Papers

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › Dysplasia

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.

Ulloa-Aguirre A et al.

Traffic (copenhagen, Denmark), 2004

Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.

Ulloa-Aguirre A et al.

Human Reproduction Update, 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."