Matches in Nanopublications for { ?s ?p "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.
- assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP820385.RABKaAduSJWO-ZFNwCUhoGcsCisTQBjXJzt4Qnnsq_Cg4130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820385.RABKaAduSJWO-ZFNwCUhoGcsCisTQBjXJzt4Qnnsq_Cg4130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852169.RA2c4ktducYCKafgZ0MCGks-KLBKIcDNMu8QshTuH3yFc130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852169.RA2c4ktducYCKafgZ0MCGks-KLBKIcDNMu8QshTuH3yFc130_provenance.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.