De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

詳細情報 詳細情報について

• CRID

  1362544420162816512

• DOI

  10.1186/1471-2350-15-49

• ISSN

  14712350

• Web Site

  http://link.springer.com/content/pdf/10.1186/1471-2350-15-49.pdf

  http://link.springer.com/article/10.1186/1471-2350-15-49/fulltext.html

  http://link.springer.com/content/pdf/10.1186/1471-2350-15-49

  https://link.springer.com/content/pdf/10.1186/1471-2350-15-49.pdf

• データソース種別

  • Crossref