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DESCRIBE <http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B>
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http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B
http://www.w3.org/2000/01/rdf-schema#comment
"A heterozygous mutation c.5284G > A (p.Gly1762Ser) in FBN1 gene was identified in all individuals affected with acromelic dysplasia in three families."
xsd:string
http://purl.uniprot.org/uniprot/#_38BF62534956CE92EB414A73578F84815F8DAA3ADDC536F3DF8BE1EC965E19A49A631510901F845B8206A76A5A24BF0C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B
http://purl.uniprot.org/uniprot/P35555
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B
http://purl.uniprot.org/uniprot/#_P35555-mappedCitation-29191498
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C3B4A5480ED4A9B653129817E04769C2E043A78401860DDC4B3FDC1F4B0D6AAA29848D6FEE0230224C0F1F2D2807426B