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DESCRIBE <http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3>
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http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus."
xsd:string
http://purl.uniprot.org/uniprot/#_2741578506973DDE7D9F75982326700B1B76AB7A53E34F2D1C611C9370E9C1344D3F790C6B360EDAB1C108F6E4637A73
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3
http://purl.uniprot.org/uniprot/Q93093
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3
http://purl.uniprot.org/uniprot/#_Q93093-mappedCitation-25741867
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/21F88056054D36AFE3D34DDC052367522AA28C7B3245D1631D28673967A33D6D33E06FCDFD383D38982502BB78E671D3