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DESCRIBE <http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1>
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http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1
http://www.w3.org/2000/01/rdf-schema#comment
"Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum."
xsd:string
http://purl.uniprot.org/uniprot/#_F598AC60038E07E9BC143A1AF3E017BA8FD0F326412296EA54E9DF565C44D5D21E25AF924EAC7478737A6176BED52099
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1
http://purl.uniprot.org/uniprot/Q9UFA1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1
http://purl.uniprot.org/uniprot/#_Q9UFA1-mappedCitation-33772159
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E088849DEC6DEE2B98A917223680CDE616D3AF684339EDB703C9E04AEC677C5C30D41F63C9DA192494211474DD5C1BD1