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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report |
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| Authors: | Francisco Martínez-Granero Elena Martínez-Cayuelas Cristina Rodilla Gonzalo Núñez-Moreno Marta Rodríguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera |
| Abstract: | |
| Keywords: | CPLANE1 developmental delay intragenic duplication Joubert syndrome long-read sequencing |