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Identification of a novel homozygous TRAPPC9 gene mutation causing non‐syndromic intellectual disability,speech disorder,and secondary microcephaly
Authors:Zahid Latif  Sylvie Picker‐Minh  Muhammad N. Khan  Sundas Farooq  Muzammil A. Khan  Angela M. Kaindl
Affiliation:1. Department of Zoology, University of Azad Jammu and Kashmir Muzaffarabad, Muzaffarabad, Pakistan;2. Charité ‐ Universit?tsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Berlin, Germany;3. Berlin Insitute of Health (BIH), Anna‐Louisa‐Karsch Strasse 2, Berlin, Germany;4. Charité ‐ Universit?tsmedizin Berlin, Department of Pediatric Neurology, Berlin, Germany;5. Department of Pediatric Neurology, Charité—Universit?tsmedizin Berlin, Berlin, Germany;6. Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan;7. Gomal Centre of Biochemistry and Biotechnology (GCBB), Gomal University, Dera Ismail Khan, Pakistan
Abstract:
Keywords:autosomal recessive intellectual disability  microcephaly  NF‐κ  B signaling  TRAPPC9 gene  vesicle trafficking
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