Meriel. McEntagart, et.al., A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect., American journal of human genetics, 2016, 98

http://rdf.ncbi.nlm.nih.gov/pubmed/27108798

Meriel. McEntagart, et.al., A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect., American journal of human genetics, 2016, 98

pubmed

allele

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

• Itpr1<em1Drf>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5823155

表現型アノテーション

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

• abnormal iris morphology_Itpr1<em1Drf>/Itpr1<+>
  http://metadb.riken.jp/0001322NSItpr1em1DrfItpr1Itpr1Itpr1em1Drf

class

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

• Itpr1<em1Drf>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5823155