Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome (Q21261476)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome |
scientific article |
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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome (English)
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Carlos López-Otín
Carlos
López-Otín
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Annachiara De Sandre-Giovannoli
Annachiara
De Sandre-Giovannoli
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1 reference
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Diana A Puente
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Joaquín Fernández-Toral
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Sabine Sigaudy
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Anwar Baban
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Gloria Velasco
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2014
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15
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51
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1
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