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DESCRIBE <http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62>
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http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62
http://www.w3.org/2000/01/rdf-schema#comment
"Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families are reported."
xsd:string
http://purl.uniprot.org/uniprot/#_C3AC39B8C48565C3D065EF78E171C4592DBE8095F472AB59BD87893EBCEF02EF0E84E69D219C0D52FC73FD09EDA10B3C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62
http://purl.uniprot.org/uniprot/Q71UH7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62
http://purl.uniprot.org/uniprot/#_Q71UH7-mappedCitation-20405025
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D9799AE602C336733FDDFBE8AADD9EE39B98D4F1B50CD7ABDE50D73EA95C5F6FFD0A472F851F134E06429EFAC302CE62