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DESCRIBE <http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A>
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http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A
http://www.w3.org/2000/01/rdf-schema#comment
"Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis."
xsd:string
http://purl.uniprot.org/uniprot/#_6A20F84112669A8133CA87311FC2489DC4AE225DF348BB1342971060AC0C0D8CE22426B6441B742A29649A3CFFA5CE16
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A
http://purl.uniprot.org/uniprot/A0A0S2Z611
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A
http://purl.uniprot.org/uniprot/#_A0A0S2Z611-mappedCitation-35621037
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/7E179A3420D546141E3D4C17752DFBF481EC31056A031A7E7BB42501CFFEDDD399FEDAD508B62552CFB68E895602F02A