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
Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.
Nguyen TQN et al.
Congenital Anomalies, 2019
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Nguyen TQ et al.
Congenital Anomalies, 2016
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