Associated Papers
Genetic variants and down-regulation of CACNA1H in pheochromocytoma.
Svahn F et al.
Endocrine-related Cancer, 2024
38864697 (PubMed )
Supplement: supplementary_tables.xlsx › Table_S2
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Plos Genetics, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Luo M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.
Zhongling K et al.
Frontiers in Genetics, 2021
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