rs587783451
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD7 gene and non-syndromic cleft lip and palate.
|
16763960 |
2006 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
|
18445044 |
2008 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
|
21931733 |
2011 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
|
21554267 |
2012 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
|
19021638 |
2009 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
|
20453063 |
2010 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: CHARGE syndrome.
|
21407266 |
2011 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
|
18074359 |
2008 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation update on the CHD7 gene involved in CHARGE syndrome.
|
22461308 |
2012 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
|
15300250 |
2004 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the CHD7 gene: the experience of a commercial laboratory.
|
21158681 |
2010 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
|
22462537 |
2013 |
rs587783451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
|
16400610 |
2006 |