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DESCRIBE <http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18>
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http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18
http://www.w3.org/2000/01/rdf-schema#comment
"Functional variants were further confirmed by western blot and the mammalian two-hybrid assays. Loss of function (LoF) variants were identified in SHROOM3. We observed 1.56 times as many rare [minor allele frequency (MAF) < 0.01]"
xsd:string
http://purl.uniprot.org/uniprot/#_133103EE4FD96339F966E4433F84720FD9C90E5E7DD8D913E21C18DCA3F60D95D4B2BC681C4503B198B436D6C6F71B41
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18
http://purl.uniprot.org/uniprot/Q8TF72
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18
http://purl.uniprot.org/uniprot/#_Q8TF72-mappedCitation-29423651
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/99760E2007DC6BA17746BD3E33CA6A52B6EA98E266FD945F4B2D69BC7AE0403650662C95F698C304F9BCA6A51B3B9A18