Detalhe da pesquisa
1.
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
J Inherit Metab Dis
; 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279772
2.
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Comput Struct Biotechnol J
; 21: 1077-1083, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789265