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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

Document Type

Article

Author

Ezell, K.M.; Tinker, R.J.; Furuta, Y.; Hamid, R.; Cogan, J.D.; Rives, L.; Neumann, S.; Corner, B.; Kozuria, M.; Phillips, J.A.; Gulsevin, A.; Bastarache, L.

Source

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, 2024)

Subject

Language

English

ISSN

15524833
15524825

Online Access

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

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