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UnknownExome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Not available
S-EPMC3347658 | biostudies-literature
UnknownHigh-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Not available
S-EPMC8099822 | biostudies-literature
UnknownA frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Not available
S-EPMC7382244 | biostudies-literature
UnknownGenome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.
Not available
S-EPMC9153011 | biostudies-literature
UnknownGermline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.
Not available
S-EPMC5008455 | biostudies-literature
UnknownDNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Not available
S-EPMC5005432 | biostudies-literature
UnknownTriallelic and epigenetic-like inheritance in human disorders of telomerase.
Not available
S-EPMC4574016 | biostudies-literature
UnknownHomozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Not available
S-EPMC6293869 | biostudies-literature
UnknownThe evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Not available
S-EPMC11473520 | biostudies-literature
UnknownATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Not available
S-EPMC11996883 | biostudies-literature
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