Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Author:
Funder
Wellcome Trust
NIHR
Action Medical Research
Action on Hearing Loss
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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5. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene;Zschocke;J. Inherit. Metab. Dis.,2012
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