• Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Leu200Argfs*87 (c.599delT); ClinVar=VCV002203514; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868).
  
• Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Glu752Ter (c.2254G>T); ClinVar=VCV000215399; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868).
  

PubMed=25422446; DOI=10.1073/pnas.1421055111; PMCID=PMC4267371
Lu S.-M., Kanekura K., Hara T., Mahadevan J., Spears L.D., Oslowski C.M., Martinez R., Yamazaki-Inoue M., Toyoda M., Neilson A., Blanner P., Brown C.M., Semenkovich C.F., Marshall B.A., Hershey T., Umezawa A., Greer P.A., Urano F.
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Proc. Natl. Acad. Sci. U.S.A. 111:E5292-E5301(2014)

PubMed=32321868; DOI=10.1126/scitranslmed.aax9106; PMCID=PMC7233417
Maxwell K.G., Augsornworawat P., Velazco-Cruz L., Kim M.H., Asada Kitamura R., Hogrebe N.J., Morikawa S., Urano F., Millman J.R.
Gene-edited human stem cell-derived beta cells from a patient with monogenic diabetes reverse preexisting diabetes in mice.
Sci. Transl. Med. 12:eaax9106.1-eaax9106.12(2020)