Published in
Cell Press, American Journal of Human Genetics, 11(108), p. 2195-2204, 2021
DOI: 10.1016/j.ajhg.2021.10.002
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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Journal article published in 2021 by
Irit Hochberg,
Leigh A. M. Demain,
Julie Richer,
Kyle Thompson,
Jill E. Urquhart,
Alessandro Rea,
Waheeda Pagarkar,
Agustí Rodríguez-Palmero 
,
Agatha Schlüter,
Edgard Verdura,
Aurora Pujol,
Pilar Quijada-Fraile,
Albert Amberger,
Andrea J. Deutschmann,
Sandra Demetz
and other authors.
,
Agatha Schlüter,
Edgard Verdura,
Aurora Pujol,
Pilar Quijada-Fraile,
Albert Amberger,
Andrea J. Deutschmann,
Sandra Demetz
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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