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Q49911128-7CB70568-36D5-41F7-8096-2AAA5569B483
Q49911128-7CB70568-36D5-41F7-8096-2AAA5569B483
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49911128-7CB70568-36D5-41F7-8096-2AAA5569B483
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.
P2860
Q49911128-7CB70568-36D5-41F7-8096-2AAA5569B483
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49911128-7CB70568-36D5-41F7-8096-2AAA5569B483
rank
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type
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Statement
wasDerivedFrom
8717d2fa9f63e025c515361ac91eeb95a1a2ada3
P2860
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.