Detalhe da pesquisa
1.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
2.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214448
3.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190