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Details on Person Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
| Class:Id | LiteratureReference:9969682 |
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| _displayName | Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia |
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| _timestamp | 2025-10-23 20:18:11 |
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| author | [Person:9967138] Horani, Amjad
[Person:9969666] Druley, Todd E
[Person:9960899] Zariwala, Maimoona A
[Person:5333644] Patel, Anand C
[Person:9969710] Levinson, Benjamin T
[Person:9969707] Van Arendonk, Laura G
[Person:9969719] Thornton, Katherine C
[Person:9969649] Giacalone, Joe C
[Person:9969662] Albee, Alison J
[Person:9969699] Wilson, Kate S
[Person:5652089] Turner, Emily H
[Person:5652103] Nickerson, Deborah A
[Person:5652117] Shendure, Jay
[Person:9969780] Bayly, Philip V
[Person:9960882] Leigh, Margaret W
[Person:9960908] Knowles, Michael R
[Person:8950428] Brody, Steven L
[Person:5626014] Dutcher, Susan K
[Person:9968866] Ferkol, Thomas W |
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| created | [InstanceEdit:9969704] Rothfels, Karen, 2025-10-23 |
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| journal | Am J Hum Genet |
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| pages | 685-93 |
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| pubMedIdentifier | 23040496 |
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| title | Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia |
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| volume | 91 |
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| year | 2012 |
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| (literatureReference) | [Reaction:9969515] DNAI1 binds DNAI2 [Homo sapiens]
[Reaction:9969863] DNAAF5 binds SPAG1 and DNAAF2 [Homo sapiens]
[RegulationReference:9969879] Positive regulation by 'DNAAF5:SPAG1:DNAAF2 [cytosol]' Establishment of the early cilia preassembly protein complex during motile ciliogenesis |
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