Skip to Main Content

Paper Details

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
Cold Spring Harb Mol Case Stud
3
2019
1q21, G, G allele, K562 cells, NCI, RBM8A, RelA, TAR, TAR-, TAR-associated 1q21, Thrombocytopenia-absent radii (TAR) syndrome, bilateral radial aplasia with thumbs present, chromosome, discovered, enhancer/repressor element, exome, human, megakaryocyte, motif, neonatal thrombocytopenia, nondeleted allele, p65, phenotype., rs61746197, single, thrombocytopenia, thrombocytopenia-absent radius-like phenotypes, variant of
Author NameAffiliation
Sarah L AnzickCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Sarah L AnzickCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yuan JiangCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yuan JiangCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yonghong WangCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yonghong WangCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yuelin J ZhuCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Yuelin J ZhuCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Paul S MeltzerCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Paul S MeltzerCenter for Cancer Research, National Cancer Institute, National Institutes of Health
Joseph F Boland
Joseph F Boland
Sharon A SavageClinical Genetics Branch, National Cancer Institute, National Institutes of Health
Sharon A SavageClinical Genetics Branch, National Cancer Institute, National Institutes of Health
  • 1 - 14

Datasets

Release 1.2