Detalhe da pesquisa
1.
MaBoSS 2.0: an environment for stochastic Boolean modeling.
Bioinformatics
; 33(14): 2226-2228, 2017 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28881959
2.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
BMC Med Genomics
; 16(1): 143, 2023 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37344844
3.
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes.
Genome Med
; 14(1): 28, 2022 03 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35264221
4.
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.
Genome Biol
; 20(1): 32, 2019 02 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30744685