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4. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA, kConFab, Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Eur J Hum Genet; 2008 Jul; 16(7):820-32. PubMed ID: 18285836 [Abstract] [Full Text] [Related]
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15. Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. De Nicolo A, Parisini E, Zhong Q, Dalla Palma M, Stoeckert KA, Domchek SM, Nathanson KL, Caligo MA, Vidal M, Cusick ME, Garber JE. Cancer Res; 2009 Sep 01; 69(17):7030-7. PubMed ID: 19706752 [Abstract] [Full Text] [Related]
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