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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1998 | 1 |
2006 | 1 |
2017 | 2 |
2024 | 0 |
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Page 1
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.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A.
Varon R, et al.
Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5.
Cell. 1998.
PMID: 9590180
Free article.
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Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P.
Varon R, et al.
Hum Mol Genet. 2006 Mar 1;15(5):679-89. doi: 10.1093/hmg/ddi482. Epub 2006 Jan 13.
Hum Mol Genet. 2006.
PMID: 16415040
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Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.
Marafie MJ, Dashti M, Al-Mulla F.
Marafie MJ, et al.
Fam Cancer. 2017 Jul;16(3):389-394. doi: 10.1007/s10689-016-9954-9.
Fam Cancer. 2017.
PMID: 27844240
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