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Bi-allelic variants in the mitochondrial RNase P subunit PR..:
Hochberg, Irit
;
Demain, Leigh A. M
;
Richer, Julie
...
American Journal of Human Genetics. , 2021
Link:
https://ddd.uab.cat/record/250495
RT Journal T1
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
UL https://suche.suub.uni-bremen.de/peid=base-ftuabarcelonapb:oai:ddd.uab.cat:250495&Exemplar=1&LAN=DE A1 Hochberg, Irit A1 Demain, Leigh A. M A1 Richer, Julie A1 Thompson, Kyle A1 Urquhart, Jill E A1 Rea, Alessandro A1 Pagarkar, Waheeda A1 Rodríguez-Palmero, Agustí A1 Schlüter, Agatha A1 Verdura, Edgard A1 Pujol, Aurora A1 Quijada-Fraile, Pilar A1 Amberger, Albert A1 Deutschmann, Andrea J A1 Demetz, Sandra A1 Gillespie, Meredith A1 Belyantseva, Inna A A1 McMillan, Hugh J A1 Barzik, Melanie A1 Beaman, Glenda M A1 Motha, Reeya A1 Ng, Kah Ying A1 O'Sullivan, James A1 Williams, Simon G A1 Bhaskar, Sanjeev S A1 Lawrence, Isabella R A1 Jenkinson, Emma M A1 Zambonin, Jessica L A1 Blumenfeld, Zeev A1 Yalonetsky, Sergey A1 Oerum, Stephanie A1 Rossmanith, Walter A1 Yue, Wyatt W A1 Zschocke, Johannes A1 Munro, Kevin J A1 Battersby, Brendan J A1 Friedman, Thomas B A1 Taylor, Robert W A1 O'Keefe, Raymond T A1 Newman, William G YR 2021 K1 Mitochondria K1 Perrault syndrome K1 PRORP K1 Sensorineural hearing loss K1 Primary ovarian insufficiency K1 Leukodystrophy K1 RNase P K1 Rare disease K1 MRPP3 JF American Journal of Human Genetics LK http://dx.doi.org/https://ddd.uab.cat/record/250495 DO https://ddd.uab.cat/record/250495 SF ELIB - SuUB Bremen
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