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Phenotypic continuum of NFU1-related disorders:

Kaiyrzhanov, R ; Zaki, MS ; Lau, T...
https://openaccess.sgul.ac.uk/id/eprint/114933/1/Ann%20Clin%20Transl%20Neurol%20-%202022%20-%20Kaiyrzhanov%20-%20Phenotypic%20continuum%20of%20NFU1_E2_80_90related%20disorders.pdf.  , 2022