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The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification
The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved and widely expressed gene which appears to be involved in eye size regulation. Mutations in human TMEM98 are found in patients with nanophthalmos (very small eyes) and variants near the gene are associated i...
Autores principales: | Cross, Sally H., Mckie, Lisa, Hurd, Toby W., Riley, Sam, Wills, Jimi, Barnard, Alun R., Young, Fiona, MacLaren, Robert E., Jackson, Ian J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153906/ https://www.ncbi.nlm.nih.gov/pubmed/32236127 http://dx.doi.org/10.1371/journal.pgen.1008583 |
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