Associated Papers
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.
Wang H et al.
Open Life Sciences, 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 › SupplTable7._Rec_CADD20
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu Q et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2020
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