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CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
by
Kim, Angelina Haesoo
,
Sakin, Irmak
,
Viviano, Stephen
,
Tuncel, Gulten
,
Aguilera, Stephanie Marie
,
Goles, Gizem
,
Jeffries, Lauren
,
Ji, Weizhen
,
Lakhani, Saquib A
,
Kose, Canan Ceylan
,
Silan, Fatma
,
Oner, Sukru Sadik
,
Kaplan, Oktay I
,
Ergoren, Mahmut Cerkez
,
Mishra-Gorur, Ketu
,
Gunel, Murat
,
Sag, Sebnem Ozemri
,
Temel, Sehime G
,
Deniz, Engin
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Life science alliance
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Life Science Alliance
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Animals
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Brain - Metabolism
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Cerebrospinal Fluid - Metabolism
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Cilia - Metabolism
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Ciliopathies - Genetics
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Ciliopathies - Metabolism
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Dna-Binding Proteins - Genetics
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Dna-Binding Proteins - Metabolism
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Female
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Fibroblasts - Metabolism
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Humans
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Intellectual Disability - Genetics
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Kidney - Metabolism
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Mutation
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