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Increasing diagnostic yield by RNA-Sequencing in rare disease— bypass hurdles of interpreting intronic or splice-altering variants
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@article{{ATM}{18808}, author = {Li, D., Tian, L., Hakonarson, H.}, title = {Increasing diagnostic yield by RNA-Sequencing in rare disease— bypass hurdles of interpreting intronic or splice-altering variants}, journal = {Annals of Translational Medicine}, volume = {6}, number = {7}, year = {2018}, url = {https://atm.amegroups.org/article/view/18808} }