Search for mutations causing defective CASR gene and related clinical information.
Highlights:
To better understand the mutations causing defects in the CASR gene and to define specific regions relevant for ligand-receptor interaction and other receptor functions, the data on mutations were collected and the information was centralized in the CASRdb, which is easily and quickly accessible by search engines for retrieval of specific information.
The information can be searched by mutation, genotype-phenotype, clinical data, in vitro analyses, and authors of publications describing the mutations.