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Article

Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia.

Annals of laboratory medicine - 1 Jul 2022

Shin Jun Hee, Lee Sae-Mi, Kim Hyun Ho, Kim Jin Kyu

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PMID: 35177576
DOI: 10.3343/alm.2022.42.4.500
PMCID: PMC8859552

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Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia.PMID 35177576Read ↗

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.Semantic proximity Read ↗

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Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener SyndromeSemantic proximity Read ↗

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Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproductionSemantic proximity Read ↗

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