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DESCRIBE <http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA>
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http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA
http://www.w3.org/2000/01/rdf-schema#comment
"Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies."
xsd:string
http://purl.uniprot.org/uniprot/#_712F50934417474E04D6C65AE013A5F9D702988703F417A05E3E9762EB2C67E99310614E7B37FE2CB37EF2A7BD06B7D5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA
http://purl.uniprot.org/uniprot/Q6IA69
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA
http://purl.uniprot.org/uniprot/#_Q6IA69-mappedCitation-35491967
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6F479EA841F585B4CD81D4DFB9AA07D84E8809C27B52B688235E9EA6BE18C4B68CEEC5DCD4538D9F55D1042CBE1EEFDA