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Q52806723-546CC8F8-9CB6-40B2-8B2B-D15AD044B6A2
Q52806723-546CC8F8-9CB6-40B2-8B2B-D15AD044B6A2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52806723-546CC8F8-9CB6-40B2-8B2B-D15AD044B6A2
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
P2860
Q52806723-546CC8F8-9CB6-40B2-8B2B-D15AD044B6A2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52806723-546CC8F8-9CB6-40B2-8B2B-D15AD044B6A2
rank
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type
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Statement
wasDerivedFrom
a93a5c636e104a7c1684ed1583eb040933f3180e
P2860
Whole exome sequencing in patients with white matter abnormalities.