Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
Titel:
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
Auteur:
Tummala, Hemanth Collopy, Laura C. Walne, Amanda J. Ellison, Alicia Cardoso, Shirleny Aksu, Tekin Yarali, Nese Aslan, Deniz Fikret Akata, Rüştü Teo, Juliana Songyang, Zhou Pontikos, Nikolas Fitzgibbon, Jude Tomita, Kazunori Vulliamy, Tom Dokal, Inderjeet