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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes | 247 |
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A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes | 2 | 7 | 5 | 2 | 17 | 2 | 0 |
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ponomarenko_srep_aden.pdf | 180 |
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