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Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08
Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
P2860
Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08
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wasDerivedFrom
9e806a95f7a64c9c39d468527ac0f1b3faac3a3a
P2860
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).