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    Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

    Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes by B. Molloy, E. R. Jones, N. D. Linhares, P. G. Buckley, T. R. Leahy, T. R. Leahy, B. Lynch, B. Lynch, I. Knerr, I. Knerr, M. D. King, M. D. King, K. M. Gorman, K. M. Gorman

    Published 2022-09-01
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