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https://repository.li.mahidol.ac.th/entities/publication/c9a2b6a8-8650-4b25-9e14-47a01b87e64d/full
Compound heterozygote of point mutation and chromosomal microdeletion involving otud6b coinciding...
The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal...
point mutationcompound