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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100.
medRxiv. 2024.
PMID: 38293053
Free PMC article.
Preprint.
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M.
Jarhelle E, et al. Among authors: hansen gam.
Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.
Sci Rep. 2019.
PMID: 31882575
Free PMC article.
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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G.
Smeland MF, et al. Among authors: hansen gam.
Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7.
Nat Commun. 2019.
PMID: 31575858
Free PMC article.
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