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DESCRIBE <http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3>
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http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3
http://www.w3.org/2000/01/rdf-schema#comment
"This study reported a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46."
xsd:string
http://purl.uniprot.org/uniprot/#_1C3AAAF712AE29FAEDBE10F2C27DCE7DC5C07B0753ABBF3B27ABE9952467A52CD0378D0E56B631E90791F1F697259E23
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3
http://purl.uniprot.org/uniprot/Q96AG3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3
http://purl.uniprot.org/uniprot/#_Q96AG3-mappedCitation-28558379
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/32901DECAC2D685987D6D10F11860F8B0C5B2CB8BD1C7F587D85ABCDE8F92B2E1B177798D3F24E5041241C28E98AE4D3