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Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.
J Med Genet. 2005 Mar;42(3):e20. doi: 10.1136/jmg.2004.027243.
J Med Genet. 2005.
PMID: 15744030
Free PMC article.
Review.
No abstract available.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM.
Ferreira EA, et al.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
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