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DESCRIBE <http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248>
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http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248
http://www.w3.org/2000/01/rdf-schema#comment
"We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]"
xsd:string
http://purl.uniprot.org/uniprot/#_133E3D791374A2B8E6B512FBDBA18CC9F1C38171C77969659B119A7115CC38A859A09105B0D10909A4275370C1247570
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248
http://purl.uniprot.org/uniprot/Q9HAN9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248
http://purl.uniprot.org/uniprot/#_Q9HAN9-mappedCitation-26464178
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5B43A2CBE25105A1BD2A21971E0B78FDEF8367F8EEF0D69073C85D42C7415BCD5CC5752E2E5EFE5C32C84C76319E9248