Author/Editor		Ahmed, Ashfaque; Wang, Meng; Bergant, Gaber; Maroofian, Reza; Zhao, Rongjuan; Alfadhel, Majid; Nashabat, Marwan; Talal AlRifai, Muhammad; Eyaid, Wafaa; Leonardis, Lea; Writzl, Karin; Peterlin, Borut
Title		Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Type		članek
Vol. and No.		, št. Vol. 140
Publication year		2021
Volume		str. 579-592
ISSN		0340-6717 - Human genetics
Language		eng
Keywords		genetics neurological disorders exome sequencing immunofluorescence genetika nevrološke motnje sekvenciranje eksomov imunoflorescenca