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http://purl.uniprot.org/SHA-384/BF8CF50AD05064029CBBDB704E0274849E37F43E83AD415AB7E867BA51F0CEAAB328FD7B2264C9C667D829813039840Dhttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BF8CF50AD05064029CBBDB704E0274849E37F43E83AD415AB7E867BA51F0CEAAB328FD7B2264C9C667D829813039840Dhttp://www.w3.org/2000/01/rdf-schema#comment"Bioinformatics analysis of protein structure and known mutations in CYP21A2 gene in congenital adrenal hyperplasia demonstrate that most of the SNPs shows no biological implications. However the study proposes a putative pathogenic effect of five novel mutations p.L107Q p.L122R p.R132H p.P335L and p.H466fs found in 21-hydroxylase deficient patients."xsd:string
http://purl.uniprot.org/uniprot/#_26878F55A20DDCF5425B4710BF621A544014456241E1FEE7AD8EFC031314C6E29B56D9F8D25A9FF9DC9EBE649F2CB6F5http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/BF8CF50AD05064029CBBDB704E0274849E37F43E83AD415AB7E867BA51F0CEAAB328FD7B2264C9C667D829813039840D
http://purl.uniprot.org/uniprot/C7DU04http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/BF8CF50AD05064029CBBDB704E0274849E37F43E83AD415AB7E867BA51F0CEAAB328FD7B2264C9C667D829813039840D
http://purl.uniprot.org/uniprot/#_C7DU04-mappedCitation-27966633http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/BF8CF50AD05064029CBBDB704E0274849E37F43E83AD415AB7E867BA51F0CEAAB328FD7B2264C9C667D829813039840D