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Case Reports
. 2007 Aug 1;143A(15):1802-5.
doi: 10.1002/ajmg.a.31808.

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

Claudio Graziano  1 , Angela V D'Elia, Laura Mazzanti, Filomena Moscano, Simonetta Guidelli Guidi, Emanuela Scarano, Daniela Turchetti, Emilio Franzoni, Giovanni Romeo, Giuseppe Damante, Marco Seri
Affiliations
Case Reports

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

Claudio Graziano et al. Am J Med Genet A. .
No abstract available

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