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DESCRIBE <http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B>
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http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B
http://www.w3.org/2000/01/rdf-schema#comment
"The ATP6V1B2 p.Arg506X is a haploinsufficient mutation and resulted in abnormal acidification in lysosomes."
xsd:string
http://purl.uniprot.org/uniprot/#_83EA384258D2BF59099398403825C7D2C486B0D3ECCCD51972817B93BCACE218DBCED9046486268E1AFE6833F335D1C8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B
http://purl.uniprot.org/uniprot/A0A140VK65
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B
http://purl.uniprot.org/uniprot/#_A0A140VK65-mappedCitation-24913193
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1C7510CAE33EAFD22BA30A8C048F75E5CE16A44F92911D93142942A2FAE6A04E9D229A991189A5E48A1EC56BECCB292B