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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Document Type

Article

Author

Angelini, Chloé; Van Gils, Julien; Bigourdan, Antoine; Jouk, Pierre-Simon; Lacombe, Didier; Menegon, Patrice; Moutton, Sébastien; Riant, Florence; Sole, Guilhem; Tournier-Lasserve, Elisabeth; Trimouille, Aurélien; Vincent, Marie; Goizet, Cyril

Source

In European Journal of Medical Genetics June 2019 62(6)

Subject

Language

ISSN

1769-7212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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