Matches in Nanopublications for { ?s ?p "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP759720.RAlxJiV3dEgyQxibyFoOeuk80Dn_5TV-SjxK76tJnZghQ130_provenance.
- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_provenance.
- NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253454.RAnK9SopX1gAlVcj67I-POuhh7TbAfbfErOGUw-RfEJdw130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.