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Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P356
Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-1BF678F2-2DBC-40A3-8957-0A72620B25D8
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
44c871cc6bb6e16ef7288c91584651149e0815fd
P356
10.1038/EJHG.2016.128
http://www.w3.org/2001/XMLSchema#string
P356
EJHG.2016.128