Variant: rs137853108 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93765617
    Alleles of this Variant: A/T

rs137853108 in TMEM67 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

rs137853108 in TMEM67 gene and JOUBERT SYNDROME 6 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs137853108 in TMEM67 gene and Meckel-Gruber syndrome PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.