Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S7_UKB_variants
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia.
Magno AL et al.
Calcified Tissue International, 2020
Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.
Zagrodna A et al.
Frontiers in Genetics, 2020
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
Tõke J et al.
Clinical Endocrinology, 2007
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.
Yun FH et al.
Clinical Biochemistry, 2007
A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes.
Vigouroux C et al.
Clinical Endocrinology, 2000
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