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Paper Title
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
PubMed
Paper Journal Title
Am J Hum Genet
Paper Citation Count
81
Paper Publication Year
2013
Bio Mention
Chlamydomonas, Chlamydomonas FAP133, DYNC2H1, DYNLL1, Deficiency of IFT proteins, IFT, Jeune asphyxiating thoracic dystrophy, Jeune syndrome, WD40 repeat-containing protein, WDR34, asphyxiating thoracic dystrophy, basal bodies, centrioles, dynein, dynein intermediate chain, dynein-1, dynein-1 light chain DYNLL1, dynein-2, heavy chain dynein ATPase/motor subunit, hedgehog, mammalian cells, mammalian dynein, skeletal ciliopathies
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