Associated Papers
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA et al.
Kidney International Reports, 2023
37441483 (PubMed )
Supplement: mmc1.pdf
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
Kurolap A et al.
Prenatal Diagnosis, 2022
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F et al.
European Journal of Human Genetics : Ejhg, 2018
Select a paper to view details