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hypocalciuric hypercalcemia
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Class C/3 (Metabotropic glutamate/pheromone receptors)
species not specified
one gene
Cancer Gene Census
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GNA11
Somatic tumors
uveal melanoma, primary central nervous system melanocytic neoplasms
Tumor types germline
Cancer Syndrom
Translocation partner
Name
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
Chromosome banding
19p13.3
Cancer molecular gen.
Dom
Mutation type
Mis
Other syndrome disease
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External
Studies of Inherited Diseases of Metabolism
PubMed Links
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AP2S1
A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17
CASR
Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia
Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
GNA11
Evolution of the mammalian G protein alpha subunit multigene family
Definition
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