repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene. NHL repeat GRCh38: Ensembl release 89: ENSG00000187566 – Ensembl,...
4 KB (461 words) - 23:28, 3 March 2023
gene mutation or an EPM2B (NHLRC1) gene mutation. 42% of the cases are caused by EPM2A and 58% are caused by EPM2B (NHLRC1). The most common mutation...
26 KB (2,694 words) - 19:54, 23 August 2024
Q86UT5 10521 NHLH1 HGNC:7817 Q02575 10522 NHLH2 HGNC:7818 Q02577 10523 NHLRC1 HGNC:21576 Q6VVB1 10524 NHLRC2 HGNC:24731 Q8NBF2 10525 NHLRC3 HGNC:33751...
282 KB (17 words) - 18:42, 6 October 2024
ribosomal protein S18B (6p21.33) MUT: methylmalonyl Coenzyme A mutase (6p12.3) NHLRC1: NHL repeat containing E3 ubiquitin protein ligase 1 (6p22.3) NOL7: nucleolar...
35 KB (2,420 words) - 20:57, 24 August 2024
S2CID 5091627. Chan EM, Young EJ, Ianzano L, et al. (October 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–7. doi:10...
24 KB (2,507 words) - 15:57, 3 December 2023
myoclonic, Lafora type; 254780; EPM2A Epilepsy, myoclonic, Lafora type; 254780; NHLRC1 Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX...
234 KB (18,877 words) - 06:16, 6 November 2024
Delgado-Escueta, Antonio V.; Minassian, Berge A. (September 7, 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–127...
52 KB (5,059 words) - 09:57, 27 August 2024