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DESCRIBE <http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125>
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http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125
http://www.w3.org/2000/01/rdf-schema#comment
"Sequence analysis of the entire coding region of the MTM1 gene identified a hemizygous deletion of the T nucleotide at position 431 in exon 6 (c.431delT [p.Leu144fs]"
xsd:string
http://purl.uniprot.org/uniprot/#_0A4CF95CF50095B119E0152D3DA0CD92C04448A9928B8EF538DDCD0C6C907E82766CBA0C33AF38B4B40AD1599FE906FF
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125
http://purl.uniprot.org/uniprot/Q13496
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125
http://purl.uniprot.org/uniprot/#_Q13496-mappedCitation-20500434
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/85F1C04D9CD5A9D99B7059493BD6699ECB0A856D0B920C418136102D8808A29659B56BA73A3CFDBFBA848593E6169125