Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
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C. Caltagirone | T. Kawarai | C. Montecchiani | A. Orlacchio | R. Kaji | M. Kamada | R. Kawakita | R. Miyamoto | L. D’Onofrio | Y. Tojima