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DESCRIBE <http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3>
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http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3
http://www.w3.org/2000/01/rdf-schema#comment
"Our findings support the pathogenic role of biallelic loss-of-function RSRC1 variants in autosomal recessive intellectual disability in addition to contributing to the phenotypic delineation of this emerging condition"
xsd:string
http://purl.uniprot.org/uniprot/#_7A3E4CE8AE4C20A3FF121D50E4AF838E45DB56FDCE405DA9C1E23148933D7C7886B9F69130A7B42BE69E43F2D59094F8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3
http://purl.uniprot.org/uniprot/Q96IZ7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3
http://purl.uniprot.org/uniprot/#_Q96IZ7-mappedCitation-32227164
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5D0649DB5F6DAB76CE1CEE995C7DBB0DCFD966D259C3F8E24712871D6C1539F0E462CE971A93DAD6B2E6E64CD075AEA3