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Q53327419-76CC8A84-C3B1-400E-80D5-6BE51A594090
Q53327419-76CC8A84-C3B1-400E-80D5-6BE51A594090
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53327419-76CC8A84-C3B1-400E-80D5-6BE51A594090
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
Q53327419-76CC8A84-C3B1-400E-80D5-6BE51A594090
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53327419-76CC8A84-C3B1-400E-80D5-6BE51A594090
rank
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type
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Statement
wasDerivedFrom
fcba9422528146c83210254a4ca64e3c3def8adc
P2860
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.