TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

Laura S. Farach*, William T. Gibson, Steven P. Sparagana, Mark Nellist, Connie T. R. M. Stumpel, Marja Hietala, Elliott Friedman, Deborah A. Pearson, Susan P. Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)771-775
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Volume173
Issue number3
DOIs
Publication statusPublished - Mar 2017

Keywords

  • tuberous sclerosis complex
  • genotype-phenotype association
  • rhabdomyoma
  • genetic counseling
  • TSC2
  • MUTATIONAL ANALYSIS
  • PHENOTYPE
  • GENOTYPE
  • SEVERITY
  • GENES

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