Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.

Published in: Clinical endocrinology (2019)

We expanded the spectrum of CASR variants in hypercalcemia with 18 novel variants, and suggest that the location of the CASR variant may affect calcium excretion as determined by the CCCR.

Keyphrases

copy number
genome wide
dna methylation
genome wide identification
binding protein