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DESCRIBE <http://purl.uniprot.org/annotation/VAR_084566>
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http://purl.uniprot.org/annotation/VAR_084566
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_084566
http://www.w3.org/2000/01/rdf-schema#comment
"In MRXSA; hypomorphic variant; does not fully rescue craniofacial patterning defects in zebrafish morphant embryos; does not affect FAM50A protein levels in patient cells; does not affect localization to the nucleus."
xsd:string
http://purl.uniprot.org/annotation/VAR_084566
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs2068797150
http://purl.uniprot.org/annotation/VAR_084566
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22853573380550702tt254tt254
http://purl.uniprot.org/annotation/VAR_084566
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/5903
http://purl.uniprot.org/annotation/VAR_084566
http://purl.uniprot.org/core/substitution
"G"
xsd:string
http://purl.uniprot.org/uniprot/Q14320
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_084566
http://purl.uniprot.org/uniprot/#_kb.Q14320_up.annotation_a.VAR_084566
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_084566