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DESCRIBE <http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD>
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http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD
http://www.w3.org/2000/01/rdf-schema#comment
"The W748S POLG1 mutation seems to lead to tissue-specific partial mtDNA depletion in patients with juvenile-onset Alpers syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_703AF7B5B8EF489B5847026876F272EF224FC2CF3267F246EB668B55345A8B05DDEEAD23F5A41470ADA68FF01DDA819B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD
http://purl.uniprot.org/uniprot/A0A3G6VDY0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD
http://purl.uniprot.org/uniprot/#_A0A3G6VDY0-mappedCitation-18294203
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4C959808F43C30489539DDF18495BDCC6A79C14DA54BAF57E3B28E932FFF1C0508027BF89C5EB39012ED62B636B0D7BD