rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
|
11179009 |
2001 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
|
21209035 |
2011 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
|
11567139 |
2001 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
|
20876674 |
2011 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
|
20177705 |
2010 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
|
16823392 |
2006 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
|
20120035 |
2010 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
|
17980398 |
2008 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
|
10874630 |
1999 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Bardet-Biedl syndrome.
|
22713813 |
2013 |
rs549625604
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
In search of triallelism in Bardet-Biedl syndrome.
|
22353939 |
2012 |