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- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion type Assertion NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_head.
- 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.
- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion evidence source_evidence_literature NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_provenance.
- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion SIO_000772 19839041 NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_provenance.
- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion wasDerivedFrom befree-20140225 NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_provenance.
- NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_assertion wasGeneratedBy ECO_0000203 NP282928.RAjaiI7jDG5OBnAJSbLNFG1o_bjw9jLlmq2_bwEbJk_IM130_provenance.