• 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
Si-Min Lu, Kohsuke Kanekura, Takashi Hara, Jana Mahadevan, Larry D. Spears, Christine M. Oslowski, Rita Martinez, Mayu Yamazaki-Inoue, Masashi Toyoda, Amber Neilson, Patrick Blanner ...Show all 18 authors... , Cris M. Brown, Clay Farmer Semenkovich, Bess Adkins Marshall, Tamara Hershey, Akihiro Umezawa, Peter A. Greer, Fumihiko Urano; Show fewer authors
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
Kristina G. Maxwell, Punn Augsornworawat, Leonardo Velazco-Cruz, Michelle H. Kim, Rie Asada Kitamura, Nathaniel J. Hogrebe, Shuntaro Morikawa, Fumihiko Urano, Jeffrey R. Millman;
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)