Associated Papers
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report.
Pang J et al.
Bmc Medical Genomics, 2024
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Lange KI et al.
Human Molecular Genetics, 2022
34964473 (PubMed )
Supplement: supplemental_lange_ddab344.pdf
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
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