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Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis
by
Zlotina, Anna
,
Barashkova, Svetlana
,
Zhuk, Sergey
,
Skitchenko, Rostislav
,
Usoltsev, Dmitrii
,
Sokolnikova, Polina
,
Artomov, Mykyta
,
Alekseenko, Svetlana
,
Simanova, Tatiana
,
Goloborodko, Maria
,
Berleva, Olga
,
Kostareva, Anna
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Orphanet journal of rare diseases
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Orphanet Journal Of Rare Diseases
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Adolescent
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Adult
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Analysis
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Axonemal Dyneins - Genetics
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Child
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Child, Preschool
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Cilia - Genetics
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Cilia - Pathology
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Cilia And Ciliary Motion
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Ciliary Motility Disorders - Genetics
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Development And Progression
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Dnah5
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Female
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Gene-Panel Sequencing
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