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DESCRIBE <http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D>
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http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D
http://www.w3.org/2000/01/rdf-schema#comment
"Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val])."
xsd:string
http://purl.uniprot.org/uniprot/#_8ECA8AE90E1C4953BA2A075CF849F07482A67A9358F414F0EC0C3E9DF16FF4E685A3D4A614986D10803BF66D7EE0E8FE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D
http://purl.uniprot.org/uniprot/Q59F15
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D
http://purl.uniprot.org/uniprot/#_Q59F15-mappedCitation-26879631
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CAA2398FC78E2B316A47F4ADBF52110A6B18550F4EF424138E17D08F0C6E37A4C6DD40EEF79757A256DD0CD0BE77755D