Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity (Q39774231)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity |
scientific article |
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity (English)
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Arnold Munnich
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Joseph Gleeson
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Sophie Thomas
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Isabelle Desguerre
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Michel Vekemans
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Nadia Elkhartoufi
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Pascale de Lonlay
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Laura Mariani
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Ji-Eun Lee
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Steven N Lisgo
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20 August 2014
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23
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5
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621-627
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