Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion type Assertion NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_head.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion description "[The most common mutation causing the severe form of CAH is a conversion of an A or C at nucleotide (nt) 656 to a G in the second intron of the steroid 21-hydroxylase gene (CYP21) causing aberrant splicing of mRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion evidence source_evidence_literature NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion SIO_000772 10381826 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion wasDerivedFrom befree-2016 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion wasGeneratedBy ECO_0000203 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.