Matches in Nanopublications for { ?s ?p "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP302264.RAoCchqds67N72EDQtzJYDniz2a8Hdg1ROrz4cIlodQTo130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP302264.RAoCchqds67N72EDQtzJYDniz2a8Hdg1ROrz4cIlodQTo130_provenance.
- NP753063.RA4-8tQZjdNwzCiFekU7IHvj2BmEvfqbC7NINHbEfw5uI130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP753063.RA4-8tQZjdNwzCiFekU7IHvj2BmEvfqbC7NINHbEfw5uI130_provenance.
- NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP681449.RA2hMS-Q0OsBlYOKaJldE6si_iGthg_NG4TsFpohbE600130_provenance.
- assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP688981.RAKdvFGElgcmmqpsPqg8M8vI-FskptPQVEwep5sTZvd_I130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP688981.RAKdvFGElgcmmqpsPqg8M8vI-FskptPQVEwep5sTZvd_I130_provenance.
- NP995374.RALTd7QVTeXrss6iR7K-ZtrSPCk2d49FpBIn57yCq3R0o130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP995374.RALTd7QVTeXrss6iR7K-ZtrSPCk2d49FpBIn57yCq3R0o130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.