Associated Papers
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.
Kambal MA et al.
Frontiers in Pediatrics, 2019
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
Khan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Sansbury FH et al.
European Journal of Human Genetics : Ejhg, 2015
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
Concepcion JP et al.
Pediatric Diabetes, 2014
Rfx6 directs islet formation and insulin production in mice and humans.
Smith SB et al.
Nature, 2010
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