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May 10, 2022
Functional assays combined with pre-mRNA splicing analysis improve variant classifica...
Mark Nellist, Hannie C.W. Douben, Marianne Hoogeveen-Westerveld, et al.
October 31, 2021
Three patients with defects in interferon gamma receptor signaling: a challenging dia...
Zijun Zhou, Iris Hollink, Arjan Bouman, et al.