RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
Crossref DOI link: https://doi.org/10.1007/8904_2018_112
Published Online: 2018-06-20
Published Print: 2018
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Quelhas, D.
Jaeken, J.
Fortuna, A.
Azevedo, L.
Bandeira, A.
Matthijs, G.
Martins, E.
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