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Mutation of <i>CFAP57</i> causes primary ciliary dyskinesia by disrupting the asymmetric targeting of a subset of ciliary inner dynein arms

2019-09-24

Abstract excerpt

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis, and is caused by defects of motile cilia and sperm flagella. We screened a cohort of affected individuals that lack an obvious TEM structural phenotype for pathogenic variants using whole exome capture and next generation sequencing. The population sampling probability (PSAP...

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Literature Corpus work
62ddbfc0-9dde-56c0-a6a2-a77711923cd4
DOI
10.1101/773028
Open publication

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