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Q50485440-50BB667D-9F74-4A99-87B6-3FFC6A45CDC7
Q50485440-50BB667D-9F74-4A99-87B6-3FFC6A45CDC7
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Statement
http://www.wikidata.org/entity/statement/Q50485440-50BB667D-9F74-4A99-87B6-3FFC6A45CDC7
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
P2860
Q50485440-50BB667D-9F74-4A99-87B6-3FFC6A45CDC7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50485440-50BB667D-9F74-4A99-87B6-3FFC6A45CDC7
rank
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type
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wasDerivedFrom
4ee3c07242a7f86a37e71e763a31f98046d5e9c2
P2860
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms