Associated Papers
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s2.xlsx › Table_S2
INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
Yakar O et al.
American Journal of Medical Genetics. Part A, 2022
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M et al.
Nature Genetics, 2016
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