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Q36559143-41BE9EFD-271C-4C84-BD16-A2F49AE68A74
Q36559143-41BE9EFD-271C-4C84-BD16-A2F49AE68A74
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36559143-41BE9EFD-271C-4C84-BD16-A2F49AE68A74
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
P2860
Q36559143-41BE9EFD-271C-4C84-BD16-A2F49AE68A74
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36559143-41BE9EFD-271C-4C84-BD16-A2F49AE68A74
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wasDerivedFrom
0c65d590953c90e867f5187c0c3935289fe58e60
P2860
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.