Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion> ?p ?o ?g. }
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- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion type Assertion NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_head.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion description "[We have characterized the point mutation responsible for an AMH-negative PMDS in three siblings: a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion evidence source_evidence_literature NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion SIO_000772 2023927 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion wasDerivedFrom befree-2016 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.
- NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_assertion wasGeneratedBy ECO_0000203 NP800767.RAYiLhYKSPGyQ_VntpT13vGHrqLZwzor7Aoft_LUvoGlA130_provenance.