Title: | A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature |
Journal : | Journal of the peripheral nervous system : JPNS, 24, 1 |
Authors: | Lerat J, Author ; Magdelaine C ; Beauvais-Dzugan H ; Espil C ; Ghorab K ; Latour P ; Derouault P ; Sturtz F ; Lia AS |
Material Type: | Article |
Publication Date: | 03/2019 |
Size: | p 139 |
Languages: | English |
Pubmed / DOI : | DOI : 10.1111/jns.12310 / Pubmed : 30734407 |
N° Profil MNM : | 2019021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30734407 |