Associated Papers
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.
Zhong F et al.
European Journal of Medical Genetics, 2023
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
Lam WY et al.
Ebiomedicine, 2021
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