Alazami AM et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10: 148-161. PMID: 25558065.
Davids M et al. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molec Genet Metab. 2020;130: 49-57. PMCID: PMC7303973.
Palmer EE et al Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Molec Genet. 2016;25: 3042-3054. PMID: 32165008.
ARV1