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Journal Articles

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Hemanth Tummala, Laura C. Collopy, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rüştü Fikret Akata, Juliana Teo, Zhou Songyang, Nikolas Pontikos, Jude Fitzgibbon, Kazunori Tomita, Tom Vulliamy, Inderjeet Dokal
Journal: Blood
Blood (2018) 132 (12): 1349–1353.
https://doi.org/10.1182/blood-2018-03-837799
Published: 2018
Includes: Supplemental data