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https://pubmed.ncbi.nlm.nih.gov/21957013/
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele
We identified a previously undescribed variant in exon 3 that encodes a stop codon, thus halting downstream translation of the CBS protein. According to the...
cystathionine beta synthase
genetic studies
myelomeningocele