Publication | Open Access
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity
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Citations
39
References
2017
Year
Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyMolecular GeneticsGenetic FactorDisease Gene IdentificationMedicineClinical Genetics
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