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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
database_cross_reference
  • url:https://www.ncbi.nlm.nih.gov/pubmed/28165343
  • url:https://www.ncbi.nlm.nih.gov/pubmed/30683667
  • url:https://www.omim.org/entry/617575
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