KIF1A missense mutations in SPG30: Distinct phenotypes according to the nature of the mutations
Stephan Klebe,Alexander Lossos,Hamid Azzedine,Emeline Mundwiller,Vardiela Meiner,Marion Gaussen,Cecilia Marelli,Magdalena Nawara,Wassila Carpentier, Vanessa J Meyer, A Raststetter,Eden R Martin,Laurent Orlando,Gabor Gyapay,Khalid H Elhachimi,B Zimmermann,Israela Lerer,Alexis Brice,Alexandra Durr,Giovanni Stevanin Basal Ganglia(2013)
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spg30,distinct phenotypes
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