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- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion type Assertion NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_head.
- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion description "[Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1) gene, whereas recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_provenance.
- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion evidence source_evidence_literature NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_provenance.
- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion SIO_000772 17631035 NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_provenance.
- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion wasDerivedFrom befree-2016 NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_provenance.
- NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_assertion wasGeneratedBy ECO_0000203 NP620074.RAQEaY5H3Ws_-oESjiCYy1UW22KodhYh4AisG-3XXUbm4130_provenance.