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https://pubmed.ncbi.nlm.nih.gov/22522420/
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg...
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It...
loss of function
ispd
mutations
disrupt
dystroglycan
https://www.ispedderm.com/projects
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ispd
https://www.su.se/utbildning/utbildningskatalog/is/sptuy-ispd
SPTUY-ISPD - Stockholms universitet
stockholms universitet
ispd