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2009 | 1 |
2014 | 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.
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Baudhuin LM, Kotzer KE, Lagerstedt SA.
Baudhuin LM, et al.
Genet Med. 2015 Mar;17(3):177-87. doi: 10.1038/gim.2014.91. Epub 2014 Aug 7.
Genet Med. 2015.
PMID: 25101912
Free article.
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[Clinical and Genetic Characteristics of Russian Marfan Patients].
Semyachkina AN, Adyan TA, Khabadze MN, Novikov PV, Polyakov AV.
Semyachkina AN, et al.
Genetika. 2015 Jul;51(7):812-20.
Genetika. 2015.
PMID: 26410935
Russian.
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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.
Stheneur C, et al.
Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18.
Eur J Hum Genet. 2009.
PMID: 19293843
Free PMC article.
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