Items where authors include "Duff-Farrier, C."
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Number of items: 2.
Article
Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. (24 more authors) (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1). 73. ISSN 1756-994X
Willoughby, J. orcid.org/0000-0002-8185-5849, Duff-Farrier, C., Desurkar, A. et al. (4 more authors) (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A, 176 (5). pp. 1049-1054. ISSN 1552-4825