CASRdb is a calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. The information can be searched by mutation, genotype-phenotype, clinical data, in vitro analyses, and authors of publications describing the mutations. CASRdb is regularly updated for new mutations and it also provides a mutation submission form to ensure up-to-date information. The home page of this database provides links to different web pages that are relevant to the CASR, as well as disease clinical pages, sequence of the CASR gene exons, and position of mutations in the CASR. The CASRdb will help researchers to better understand and analyze the mutations, and aid in structure-function analyses.
Resource Type: Resource
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familial hypocalciuric hypercalcemia, benign hypocalciuric hypercalcemia, calcium-sensing, hypocalciuric hypercalcemia, mutation causing hypocalciuric hypercalcemia
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Created 2 weeks ago by Christie Wang
Created 5 years ago by Anonymous