A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation (Q56994757)

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A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
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    A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation (English)
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    Claudio Graziano
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    Angela V D'Elia
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    Filomena Moscano
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    Simonetta Guidelli Guidi
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    Emanuela Scarano
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    Giovanni Romeo
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    Giuseppe Damante
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    1 August 2007
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    143A
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    15
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    1802-5
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