Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R230P
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AVPR2

NM_000054.7:p.R230P

Associated Papers

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Liao P et al.

Frontiers in Pediatrics, 2021

33996673 (PubMed )
Supplement: Data_Sheet_1.pdf

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

Boson WL et al.

Genetic Testing, 2006

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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."