ocular hypertelorism_Fgfr2<tm4Lni>/Fgfr2<+>

http://metadb.riken.jp/0001300NSFgfr2tm4LniFgfr2Fgfr2Fgfr2tm4Lni

ocular hypertelorism_Fgfr2<tm4Lni>/Fgfr2<+>

表現型アノテーション

MGI marker

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

• fibroblast growth factor receptor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:95523

遺伝子型

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

• Fgfr2<tm4Lni>/Fgfr2<+>

アレルシンボル

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

• Fgfr2<+>|Fgfr2<tm4Lni>

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

• ocular hypertelorism
  http://purl.obolibrary.org/obo/MP_0001300

文献

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

• Veraragavan P. Eswarakumar, et.al., A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis., Proceedings of the National Academy of Sciences of the United States of America, 2004, 101
  http://rdf.ncbi.nlm.nih.gov/pubmed/15316116