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 › Glu942Lys
[A calcium-sensing receptor polymorphism at E942K promotes the proliferation of gastric cancer cells via Ca2+ and ERK1/2 pathways].
Zhang YB et al.
Sheng Li Xue Bao : [acta Physiologica Sinica], 2020
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.
Kim HW et al.
Brain & Development, 2018
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
Park SY et al.
Journal of Korean Medical Science, 2013
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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