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- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion type Assertion NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_head.
- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion description "[The affected boy, who possesses mutant HSD10 (p.V65A), has a neurological syndrome with metabolic derangements, choreoathetosis, refractory epilepsy and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_provenance.
- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion evidence source_evidence_literature NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_provenance.
- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion SIO_000772 22132097 NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_provenance.
- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion wasDerivedFrom befree-2016 NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_provenance.
- NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_assertion wasGeneratedBy ECO_0000203 NP943146.RAVybd_p2m1X4I7k9k4yCyyCZqg0OI4lTwE0q6M_fhEsQ130_provenance.