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Q43643101-71278689-8382-4AE7-9557-07E10290D4E9
Q43643101-71278689-8382-4AE7-9557-07E10290D4E9
BestRank
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http://www.wikidata.org/entity/statement/Q43643101-71278689-8382-4AE7-9557-07E10290D4E9
Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
P2860
Q43643101-71278689-8382-4AE7-9557-07E10290D4E9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q43643101-71278689-8382-4AE7-9557-07E10290D4E9
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wasDerivedFrom
3fdf2c5866ead2be6607be622acdd93f435ebbce
P2860
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds