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Q39906643-056D471A-B4CF-4D85-9E4B-6E84A9E64526
Q39906643-056D471A-B4CF-4D85-9E4B-6E84A9E64526
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-056D471A-B4CF-4D85-9E4B-6E84A9E64526
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
P2860
Q39906643-056D471A-B4CF-4D85-9E4B-6E84A9E64526
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-056D471A-B4CF-4D85-9E4B-6E84A9E64526
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Statement
wasDerivedFrom
9e806a95f7a64c9c39d468527ac0f1b3faac3a3a
P2860
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.