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- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion type Assertion NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_head.
- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion description "[One nH-JEB patient showed no COL17A1 expression and was a compound heterozygote for the novel premature termination codon (PTC) mutations 1285delA and Q1387X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_provenance.
- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion evidence source_evidence_literature NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_provenance.
- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion SIO_000772 16820943 NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_provenance.
- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion wasDerivedFrom befree-20140225 NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_provenance.
- NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_assertion wasGeneratedBy ECO_0000203 NP346244.RAXu_KlnjXeEgHjTo5YvP4QS189V7AY1ZL9BQu3_e__wM130_provenance.