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Year | Number of Results |
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2001 | 1 |
2005 | 1 |
2014 | 1 |
2024 | 0 |
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DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Mol Cell. 2001 Dec;8(6):1175-85. doi: 10.1016/s1097-2765(01)00408-7.
Mol Cell. 2001.
PMID: 11779494
Free article.
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM.
Ben-Omran TI, et al.
Am J Med Genet A. 2005 Sep 1;137A(3):283-7. doi: 10.1002/ajmg.a.30869.
Am J Med Genet A. 2005.
PMID: 16088910
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Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C.
MacArthur DG, et al.
Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127.
Nature. 2014.
PMID: 24759409
Free PMC article.
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