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Q38210007-E4EC9D0E-B20F-4302-A002-98301AC989D6
Q38210007-E4EC9D0E-B20F-4302-A002-98301AC989D6
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http://www.wikidata.org/entity/statement/Q38210007-E4EC9D0E-B20F-4302-A002-98301AC989D6
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
P2860
Q38210007-E4EC9D0E-B20F-4302-A002-98301AC989D6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38210007-E4EC9D0E-B20F-4302-A002-98301AC989D6
rank
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type
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Statement
wasDerivedFrom
92e77cca59b14e3f1bce3be9621dda371fc49a59
P2860
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.