abnormal myocardial fiber physiology_Casq2<tm2Jse>/Casq2<tm2Jse>

http://metadb.riken.jp/0004215NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse

abnormal myocardial fiber physiology_Casq2<tm2Jse>/Casq2<tm2Jse>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• calsequestrin 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1309469

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Casq2<tm2Jse>/Casq2<tm2Jse>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Casq2<tm2Jse>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• Not Specified

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal myocardial fiber physiology
  http://purl.obolibrary.org/obo/MP_0004215

文献

http://purl.org/net/cito/citesAsAuthority

• Lei. Song, et.al., Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia., The Journal of clinical investigation, 2007, 117
  http://rdf.ncbi.nlm.nih.gov/pubmed/17607358