Detalhe da pesquisa
1.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
Blood
; 139(21): 3111-3126, 2022 05 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35213692
2.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31630789
3.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Nucleic Acids Res
; 48(2): 770-787, 2020 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31799629