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Proteins

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Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
Proteins
The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.
Proteins
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Proteins
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Proteins
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Proteins
[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].
Proteins
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
Proteins
Tenuifilum thalassicum gen. nov., sp. nov., a novel moderate thermophilic anaerobic bacterium from a Kunashir Island shallow hot spring representing a new family Tenuifilaceae fam. nov. in the class Bacteroidia.
Proteins
The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
Proteins
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
Proteins

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