ciliogenesis and planar polarity effector 1 isoform X1 [Homo sapiens]

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Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. [Mol Genet Genomic Med. 2022]
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H, Wu Y, Wang Y, Zhang J. Mol Genet Genomic Med. 2022 Mar; 10(3):e1877. Epub 2022 Jan 29.
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants. [Mol Genet Genomic Med. 2021]
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Zhang X, Shen Y, Li P, Cai R, Lu C, Li Q, Chen C, Yu Y, Cheng T, Wang X, et al. Mol Genet Genomic Med. 2021 Jun; 9(6):e1682. Epub 2021 Apr 6.
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia. [Eur J Med Genet. 2021]
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
Zhu H, Chen W, Ren H, Zhang Y, Niu Y, Wu D, Jiang L. Eur J Med Genet. 2021 Jun; 64(6):104212. Epub 2021 Mar 30.

RefSeq genomic sequence
See the genomic reference sequence for the CPLANE1 gene (NG_032772.3).
RefSeq mRNA
See reference mRNA sequence for the CPLANE1 gene (XM_011514085.4).
RefSeq protein isoforms
See 98 reference sequence protein isoforms for the CPLANE1 gene.

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