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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report

Document Type

Article

Author

Martínez-Granero, F.; Rodilla, C.; Núñez-Moreno, G.; Rodríguez de Alba, M.; Blanco-Kelly, F.; Romero, R.; Minguez, P.; Ayuso, C.; Lorda-Sanchez, I.; Corton, M.; Almoguera, B.; Martínez-Cayuelas, E.

Source

In: Clinical Genetics. (Clinical Genetics, April 2023, 103(4):448-452)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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