Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
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M. Cortón | B. Almoguera | F. Blanco-Kelly | P. Mínguez | I. Lorda‐Sánchez | R. Romero | E. Martinez-Cayuelas | C. Ayuso | Gonzalo Núñez-Moreno | Francisco Martínez-Granero | M. Rodríguez de alba | C. Rodilla
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