A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh,

Genome Medicine · 2022 · 50 citations · 33 references

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