Avtor/Urednik | 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 | |
Naslov | Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy | |
Tip | članek | |
Vol. in št. | , št. Vol. 140 | |
Leto izdaje | 2021 | |
Obseg | str. 579-592 | |
ISSN | 0340-6717 - Human genetics | |
Jezik | eng | |
Proste vsebinske oznake | genetics neurological disorders exome sequencing immunofluorescence genetika nevrološke motnje sekvenciranje eksomov imunoflorescenca |