Matches in Nanopublications for { ?s ?p "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.
- assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1065710.RAHpc4-D9l4STYHnfaB5767yd5fb0ALo86HW_ZqjLWssY130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.