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2012 | 1 |
2016 | 1 |
2017 | 1 |
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.
Staropoli JF, et al.
Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.
Am J Hum Genet. 2012.
PMID: 22748208
Free PMC article.
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Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA.
Moen MN, et al.
Brain. 2016 Dec;139(Pt 12):3109-3120. doi: 10.1093/brain/aww244. Epub 2016 Oct 14.
Brain. 2016.
PMID: 27742667
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