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Q36894846-3E0992F0-7002-4A35-86D5-31A80F888F04
Q36894846-3E0992F0-7002-4A35-86D5-31A80F888F04
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36894846-3E0992F0-7002-4A35-86D5-31A80F888F04
RARS2 mutations in a sibship with infantile spasms.
P2860
Q36894846-3E0992F0-7002-4A35-86D5-31A80F888F04
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36894846-3E0992F0-7002-4A35-86D5-31A80F888F04
rank
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type
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wasDerivedFrom
cc4824a13c78510ae0e0ed4b652d72a0cdbccda9
P2860
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.