Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. (Q50736850)
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scientific article published on 5 November 2012
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. |
scientific article published on 5 November 2012 |
Statements
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. (English)
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Grazia Annesi
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Patrizia Tarantino
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Maurizio Viri
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Laura Mumoli
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Monica Gagliardi
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Antonino Romeo
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Federico Zara
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5 November 2012
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12
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e196-9
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