Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

Por Yu, Allen Chi-Shing, Chan, Anne Yin-Yan, Au, Wing Chi, Shen, Yun, Chan, Ting Fung, Chan, Ho-Yin Edwin
Publicado no Cold Spring Harb Mol Case Stud (2016)