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
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
Bircan A et al.
Plos Computational Biology, 2024
Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports.
Courtney A et al.
Bmc Endocrine Disorders, 2022
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