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

Hemanth TummalaLaura C CollopyAmanda J WalneAlicia EllisonShirleny CardosoTekin AksuNese YaraliDeniz AslanRüştü Fikret AkataJuliana TeoZhou SongyangNikolas PontikosJude FitzgibbonKazunori TomitaTom VulliamyInderjeet Dokal

Published in: Blood (2018)

Keyphrases

copy number
protein protein

amino acid
binding protein

small molecule
gene expression

dna methylation