Associated Papers
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK et al.
Scientific Reports, 2023
First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Bandini P et al.
British Journal of Haematology, 2023
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M et al.
Blood, 2023
ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
Baccelli F et al.
Annals of Hematology, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
37091189 (PubMed )
Supplement: Table_1.xlsx › ERCC6L2
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H et al.
British Journal of Haematology, 2022
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
Douglas SPM et al.
Scientific Reports, 2022
35739278 (PubMed )
Supplement: 41598_2022_14364_MOESM1_ESM.xlsx › Supplementary_table_1
Select a paper to view details