Publication | Open Access
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
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Citations
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References
2018
Year
Bi-allelic MutationsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular BiologyHypomyelinating LeukodystrophyDegenerative DiseaseMolecular GeneticsGlutamyl-prolyl-aminoacyl-trna SynthetaseMedicineLysosomal Storage Disease
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