rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural mechanism of ligand activation in human calcium-sensing receptor.
|
27434672 |
2016 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.
|
26386835 |
2016 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
|
25292184 |
2014 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
|
25104082 |
2014 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.
|
23966241 |
2013 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
|
21643651 |
2012 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.
|
22114145 |
2011 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.
|
21566075 |
2011 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
|
19789209 |
2009 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
|
17473068 |
2007 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
|
17698911 |
2007 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
|
16740594 |
2006 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
|
15572418 |
2005 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
|
15879434 |
2005 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
|
11762699 |
2001 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
|
9298824 |
1997 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
|
8878438 |
1996 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
|
8636323 |
1996 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
|
7673400 |
1995 |
rs104893717
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
7916660 |
1993 |
rs104893717
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|