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Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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Mutations in TMEM231 cause Meckel-Gruber syndrome.

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Nat Cell Biol 18:122-31 (2016)
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A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Mol Genet Genomic Med 7:e614 (2019)
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