Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P682L
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CASR

NM_000388.4:p.P682L

Associated Papers

Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.

Karakaş H et al.

Molecular Syndromology, 2025

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

Zhang R et al.

Frontiers in Genetics, 2025

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Genetics of hereditary forms of primary hyperparathyroidism.

English KA et al.

Hormones (athens, Greece), 2024

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.

Savas-Erdeve S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

Genetics of pancreatitis.

LaRusch J et al.

Current Opinion in Gastroenterology, 2011

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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."