Matches in Nanopublications for { ?s ?p "[Hyperekplexia is an autosomal dominant disorder caused by a point mutation in the alpha1 subunit of the glycine receptor, characterized by excessive startle responses followed by temporary generalized stiffness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 1 of
1
with 100 items per page.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion description "[Hyperekplexia is an autosomal dominant disorder caused by a point mutation in the alpha1 subunit of the glycine receptor, characterized by excessive startle responses followed by temporary generalized stiffness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.