Human Genome Epidemiology Literature Finder
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Records 1 - 3 (of 3 Records) |
| Query Trace: Disease and TDP1[original query] |
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| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
Melanoma research 2019 Oct . Thomsen Hauke, Chattopadhyay Subhayan, Hoffmann Per, Nöthen Markus M, Kalirai Helen, Coupland Sarah E, Jonas Jost B, Hemminki Kari, Försti As |
| Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1). Molecular biology reports 2024 11 52 (1): 7. Riaz Ahmad, Filza Sayyad, Muhammad Naeem, Henry Hould |
- Page last reviewed:Feb 1, 2024
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