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Year | Number of Results |
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2013 | 1 |
2014 | 2 |
2018 | 1 |
2021 | 1 |
2024 | 0 |
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Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Parkinsonism Relat Disord. 2014 Jan;20(1):75-81. doi: 10.1016/j.parkreldis.2013.09.021. Epub 2013 Sep 25.
Parkinsonism Relat Disord. 2014.
PMID: 24094725
New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
Lu CX, Qing Lin, Huang WQ, Tzeng CM.
Lu CX, et al.
Eur J Med Genet. 2014 Sep;57(9):498-502. doi: 10.1016/j.ejmg.2014.04.016. Epub 2014 May 28.
Eur J Med Genet. 2014.
PMID: 24878384
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An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Chen HI, Jagadeesh KA, Birgmeier J, Wenger AM, Guturu H, Schelley S, Bernstein JA, Bejerano G.
Chen HI, et al.
Eur J Hum Genet. 2018 Dec;26(12):1810-1818. doi: 10.1038/s41431-018-0221-4. Epub 2018 Aug 7.
Eur J Hum Genet. 2018.
PMID: 30087448
Free PMC article.
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL.
Haverfield EV, et al.
BMC Med. 2021 Aug 18;19(1):199. doi: 10.1186/s12916-021-01999-2.
BMC Med. 2021.
PMID: 34404389
Free PMC article.
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