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Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

Document Type

Article

Author

Tsygankova, P.; Bychkov, I.; Minzhenkova, M.; Bessonova, L.; Beskorovainiy, N.; Tabakov, V.; Itkis, Y.; Shilova, N.; Zakharova, E.; Pechatnikova, N.; Buyanova, G.; Naumchik, I.

Source

In: Molecular Genetics and Metabolism Reports. (Molecular Genetics and Metabolism Reports, September 2022, 32)

Subject

Language

English

ISSN

22144269

Online Access

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

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