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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.
Neurol Genet. 2019.
PMID: 31192300
Free PMC article.
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Safka Brozkova D, Uhrova Meszarosova A, Lassuthova P, Varga L, Staněk D, Borecká S, Laštůvková J, Čejnová V, Rašková D, Lhota F, Gašperíková D, Seeman P.
Safka Brozkova D, et al.
Genes (Basel). 2021 May 1;12(5):684. doi: 10.3390/genes12050684.
Genes (Basel). 2021.
PMID: 34062854
Free PMC article.
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