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DESCRIBE <http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF>
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http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF
http://www.w3.org/2000/01/rdf-schema#comment
"Here we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration."
xsd:string
http://purl.uniprot.org/uniprot/#_24D99F11AD72D6F73BDE5FD4C8F25B79CA66FC4588C0AF23D96ACD93CDF7FA017B99DB9117C0B3C14C3912A4440A93A0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF
http://purl.uniprot.org/uniprot/Q9Y5Y0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF
http://purl.uniprot.org/uniprot/#_Q9Y5Y0-mappedCitation-29192808
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/41A830964FA50D5710A147397106BB0F3BB84ACEEA6E3474004C928B97F8B1AA2B888764496A8C8A1C5EE2CB182396DF