Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement


Utine E. G. , TAŞKIRAN Z. E. , KOŞUKCU C., DOĞAN Ö. , Kiper O. P. S. , BODUROĞLU O. K. , ...More

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.932 identifier

  • Publication Type: Conference Paper / Summary Text
  • Volume: 26
  • City: Copenhagen
  • Country: Denmark
  • Page Numbers: pp.932