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EJHG.2016.128
EJHG.2016.128
http://dx.doi.org/10.1038/EJHG.2016.128
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P356
Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
P356
EJHG.2016.128
http://dx.doi.org/10.1038/EJHG.2016.128