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- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion type Assertion NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_head.
- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion description "[In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_provenance.
- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion evidence source_evidence_literature NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_provenance.
- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion SIO_000772 11302742 NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_provenance.
- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion wasDerivedFrom befree-2016 NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_provenance.
- NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_assertion wasGeneratedBy ECO_0000203 NP314387.RADOtuiMPaanUJfYxKarz2XTXVoL3YL9yUjbOld32Nf9k130_provenance.