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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. Rivera-Muñoz EA, et al. Among authors: eng c. Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645. Hum Mutat. 2018. PMID: 30311389 Free PMC article.
Familial cancer syndromes.
Eng C, Stratton M, Ponder B, Murday V, Easton D, Sacks N, Watson M, Eeles R. Eng C, et al. Lancet. 1994 Mar 19;343(8899):709-13. doi: 10.1016/s0140-6736(94)91585-7. Lancet. 1994. PMID: 7907684 No abstract available.
1,913 results