Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
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H. Mandel | M. Berant | R. Gershoni-baruch | E. Schaftingen | J. Fryns | S. Lischinsky | R. Rod | E. Van Schaftingen | J. Jaeken | J. Fryns | C. Knopf | R. Brill-Zamir