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DESCRIBE <http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949>
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http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949
http://www.w3.org/2000/01/rdf-schema#comment
"A homozygous c.325G>A mutation in cationic amino cid transport proteins (SLC7A9) was identified in two patients and six neutral and basic amino acid transporter protein (SLC3A1) mutations were found in five patients."
xsd:string
http://purl.uniprot.org/uniprot/#_9763889E22D17FA36A2F972EEB6A698175FE3CAA69639C2B476877FF415ACCE14E0EB5312F288649FF3FE70B58BED4A6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949
http://purl.uniprot.org/uniprot/A0A0S2Z4E1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949
http://purl.uniprot.org/uniprot/#_A0A0S2Z4E1-mappedCitation-30146843
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A4B086F8071231129F379E8F9688D8B7A1D380F38EE3CE7E0E628DFA7B309BF2D70317ADFF52AEF3070B1DD504A34949