Source:http://linkedlifedata.com/resource/lhgdn/association:4133
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
A heterozygous missense mutation in exon 6 that substitutes a glutamic acid for the glycine at codon 557 (Gly557Glu), which corresponds to the extracellular domain cosegregates with hypocalciuric hypercalcemia
|
| lhgdn:mesh_code |
D006934
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |