Detalhe da pesquisa
1.
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Br J Haematol
; 203(5): 852-859, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37610030
2.
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Haematologica
; 107(9): 2249-2254, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586967
3.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Front Genet
; 14: 1209138, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547463