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1221.
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Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso. [electronic resource] by
- Sagna, Tani
- Bonora, Elena
- Ouedraogo, Marie Nabonswindé Lamoussa
- Fusco, Daniela
- Zoure, Abdou Azaque
- Bisseye, Cyrille
- Djigma, Florencia
- Kafando, Jacques Gilbert
- Zongo, Nayi
- Douamba, Zoenabo
- Obiri-Yeboah, Dorcas
- Turchetti, Daniela
- Pietra, Virginio
- Lompo, Olga Melanie
- Ouedraogo, Charlemagne
- Seri, Marco
- Simpore, Jacques
Producer: 20200331
In:
Biomolecular concepts vol. 10
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1222.
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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. [electronic resource] by
- Abul-Husn, Noura S
- Soper, Emily R
- Odgis, Jacqueline A
- Cullina, Sinead
- Bobo, Dean
- Moscati, Arden
- Rodriguez, Jessica E
- Loos, Ruth J F
- Cho, Judy H
- Belbin, Gillian M
- Suckiel, Sabrina A
- Kenny, Eimear E
Producer: 20200514
In:
Genome medicine vol. 12
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1223.
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1224.
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1225.
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1226.
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1227.
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1228.
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1229.
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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. [electronic resource] by
- Barker, Shannon D
- Bale, Sherri
- Booker, Jessica
- Buller, Arlene
- Das, Soma
- Friedman, Kenneth
- Godwin, Andrew K
- Grody, Wayne W
- Highsmith, Edward
- Kant, Jeffery A
- Lyon, Elaine
- Mao, Rong
- Monaghan, Kristin G
- Payne, Deborah A
- Pratt, Victoria M
- Schrijver, Iris
- Shrimpton, Antony E
- Spector, Elaine
- Telatar, Milhan
- Toji, Lorraine
- Weck, Karen
- Zehnbauer, Barbara
- Kalman, Lisa V
Producer: 20100112
In:
The Journal of molecular diagnostics : JMD vol. 11
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1232.
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1233.
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1234.
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MuSiC: identifying mutational significance in cancer genomes. [electronic resource] by
- Dees, Nathan D
- Zhang, Qunyuan
- Kandoth, Cyriac
- Wendl, Michael C
- Schierding, William
- Koboldt, Daniel C
- Mooney, Thomas B
- Callaway, Matthew B
- Dooling, David
- Mardis, Elaine R
- Wilson, Richard K
- Ding, Li
Producer: 20121203
In:
Genome research vol. 22
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1235.
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Germline RAD51C mutations in ovarian cancer susceptibility. [electronic resource] by
- Coulet, F
- Fajac, A
- Colas, C
- Eyries, M
- Dion-Minière, A
- Rouzier, R
- Uzan, S
- Lefranc, J-P
- Carbonnel, M
- Cornelis, F
- Cortez, A
- Soubrier, F
Producer: 20140114
In:
Clinical genetics vol. 83
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1236.
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1237.
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1238.
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1239.
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Functional and structural analysis of C-terminal BRCA1 missense variants. [electronic resource] by
- Quiles, Francisco
- Fernández-Rodríguez, Juana
- Mosca, Roberto
- Feliubadaló, Lídia
- Tornero, Eva
- Brunet, Joan
- Blanco, Ignacio
- Capellá, Gabriel
- Pujana, Miquel Àngel
- Aloy, Patrick
- Monteiro, Alvaro
- Lázaro, Conxi
Producer: 20131111
In:
PloS one vol. 8
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1240.
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