×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
16582908
2006
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
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
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
20498079
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
20080638
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
21642631
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20120035
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
20805367
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
17980398
2008
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
In search of triallelism in Bardet-Biedl syndrome.
22353939
2012
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
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
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
21209035
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
20177705
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
10874630
1999
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
11567139
2001
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
20876674
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
GeneticVariation
CLINVAR
Bardet-Biedl syndrome.
22713813
2013
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20120035
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
Bardet-Biedl syndrome.
22713813
2013
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
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
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
11567139
2001
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
20498079
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
17980398
2008
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Overgrowth
0.100
CausalMutation
CLINVAR
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
20805367
2010