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pro vyhledávání: '"Swetha Medchalmi"'
Publikováno v:
In Archives of Biochemistry and Biophysics 1 November 2015 585:98-108
Publikováno v:
The FEBS journalReferences. 288(15)
Mutations in OPTN are associated with glaucoma, an eye disease, and also with amyotrophic lateral sclerosis (ALS), a motor neuron disease. A 2-bp insertion in OPTN (691_692insAG or 2bpIns-OPTN) is associated with both glaucoma and ALS. This mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25cea9dea6efc21c6cd9fbcd306ae287
https://pubmed.ncbi.nlm.nih.gov/33548116
https://pubmed.ncbi.nlm.nih.gov/33548116