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Q36447371-92C51430-7024-4E4E-AD82-CB31FDBAF942
Q36447371-92C51430-7024-4E4E-AD82-CB31FDBAF942
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Statement
http://www.wikidata.org/entity/statement/Q36447371-92C51430-7024-4E4E-AD82-CB31FDBAF942
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
P2860
Q36447371-92C51430-7024-4E4E-AD82-CB31FDBAF942
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36447371-92C51430-7024-4E4E-AD82-CB31FDBAF942
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wasDerivedFrom
63fc61ab913591d93b9087eff849a40f142a25e8
P2860
Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome