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Q53327419-67BBC5DF-440A-4D49-B86A-DAD633626AE0
Q53327419-67BBC5DF-440A-4D49-B86A-DAD633626AE0
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http://www.wikidata.org/entity/statement/Q53327419-67BBC5DF-440A-4D49-B86A-DAD633626AE0
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
P2860
Q53327419-67BBC5DF-440A-4D49-B86A-DAD633626AE0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53327419-67BBC5DF-440A-4D49-B86A-DAD633626AE0
rank
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type
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wasDerivedFrom
fcba9422528146c83210254a4ca64e3c3def8adc
P2860
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I