首页> International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience> Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

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第一作者： Wahid,Ullah

第一单位： Centre for Omic Sciences, Islamia College University, Peshawar, Pakistan.

作者： Wahid,Ullah ^[1] ; Muhammad,Ilyas ^[2] ; Muhammad,Tariq ^[3] ; Maria,Imdad ^[4] ; Ikram,Ullah ^[1] ; Stephanie,Efthymiou ^[5] ; Muhammad,Faheem ^[6] ; Muhammad,Abbas ^[1] ; SYNAPS Study Group ^[5] ; Muhammad,Aamir ^[1] ; Muhammad,Nouman ^[7] ; Henry,Houlden ^[5]

作者单位： Centre for Omic Sciences, Islamia College University, Peshawar, Pakistan. ^[1] Centre for Omic Sciences, Islamia College University, Peshawar, Pakistan.;Department of Bioengineering, University of Engineering and Applied Sciences, Swat, Pakistan. ^[2] National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan. ^[3] Centre for Human Genetics, Hazara University, Mansehra, Pakistan. ^[4] Queen Square Institute of Neurology, University College London, London, UK. ^[5] Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan. ^[6] Lady Reading Hospital, Peshawar, Pakistan. ^[7]

关键词 Micro syndrome RAB3GAP1 Rab18 WARBM spastic diplegia