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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Document Type

Article

Author

Mansour-Hendili, L.; Latouche, C.; Funalot, B.; Gitiaux, C.; Schiff, M.; Rötig, A.; Desguerre, I.; Harion, M.; Heron, B.; Stojkovic, T.; Rama, M.; Smol, T.; Sophie Jourdain, A.; Ghoumid, J.; Mention, K.; Nadjar, Y.; Lemale, J.; Gottrand, F.; Talbotec, C.

Source

In: Frontiers in Genetics. (Frontiers in Genetics, January 2024, 15)

Subject

Language

English

ISSN

16648021

Online Access

Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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