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DESCRIBE <http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4>
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http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4
http://www.w3.org/2000/01/rdf-schema#comment
"A recurrent missense mutation c.773C>T (p.S258F) in exon 2 of the gap junction protein alpha 8 gene (GJA8) was identified in the proband with nuclear cataract."
xsd:string
http://purl.uniprot.org/uniprot/#_C625810564B7E5DB7BACE4E5266B502613FD667131824305AA3F586B530ABFCAE43FB8168D5A5A655B3E0B0A17D91C96
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4
http://purl.uniprot.org/uniprot/P48165
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4
http://purl.uniprot.org/uniprot/#_P48165-mappedCitation-25301372
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85791775ACEAD2F1D712091CF263189B53F3138C33A79FD3BE3983B0E7623689D79A3A270A093D8E775C2526E36895E4