In line with a recent study showing that mutations found in the common population cannot be ruled out as pathogenic, we have identified the p.Gly646Trpfs*12 mutation-present in 132 individuals in ExAC-as a very probable cause of the disease in a Bohring-Opitz syndrome patient.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099046 | PMC |
| http://dx.doi.org/10.1002/ccr3.1603 | DOI Listing |
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