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DESCRIBE <http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F>
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http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F
http://www.w3.org/2000/01/rdf-schema#comment
"Direct sequencing of HEXA and HEXB genes showed recurrent homozygous variants at c.509G>A (p.Arg170Gln) and c.850C>T (p.Arg284Ter) in gangliosidosis respectively"
xsd:string
http://purl.uniprot.org/uniprot/#_0DF8DD7D8F301572ABDD025D3C6ADE5FEB16121CEDF9FC5C487EFA06AEE91D4C8D44839A3838DFFDE33D09BA7A3B40E8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F
http://purl.uniprot.org/uniprot/Q5URX0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F
http://purl.uniprot.org/uniprot/#_Q5URX0-mappedCitation-29448188
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EC4117C7A7CB5559D38EDB4108AF3AFBAC1ED6C3E355BCFECDCBFDD694BC1871C647DBDE01C0698A0CCCA524C2D9356F