rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
|
12679486 |
2003 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
|
11994356 |
2002 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
|
11318785 |
2001 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
|
11397871 |
2001 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
|
11397842 |
2001 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred.
|
10022417 |
1999 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
|
10084584 |
1999 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
|
10523035 |
1999 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
|
9425890 |
1998 |
rs104893844
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
|
9371856 |
1997 |
rs104893844
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|