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Am J Hum Genet. 1996 Dec;59(6):1391-3.

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

PMID:
8940285
PMCID:
PMC1914867
[Indexed for MEDLINE]
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