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DESCRIBE <http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182>
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http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182
http://www.w3.org/2000/01/rdf-schema#comment
"The uniqueness of our case is the sporadic co-occurrence of two genetic disorders that is a de novo frameshift variant in the KMT2D gene and a de novo 3.2 Mbp 10q22.3q23.1 deletion."
xsd:string
http://purl.uniprot.org/uniprot/#_389F4CDFFDCC69F0A55A2BD04535A5DB21F1E1B528920AF27A7F3EDBD43B543DF33DA1BFAB40212CBBCA86248C9414F1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182
http://purl.uniprot.org/uniprot/O14686
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182
http://purl.uniprot.org/uniprot/#_O14686-mappedCitation-28590022
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EE456C86BCB9A32CB266E5BF7C6679A594E05E96C9D5432298C21423B586D3923D7E0EB94CF31262358706C595D6C182