Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601 | PMC |
| http://dx.doi.org/10.1002/ccr3.1226 | DOI Listing |
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