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Journal of Clinical Oncology, ISSN 0732-183X, 2018, Volume 36, Issue 29, pp. 2961 - 2968
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2016, Volume 11, Issue 6, p. e0157381
Journal Article
Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2015, Volume 3, Issue 4, pp. 327 - 345
A subset of DNA variants causes genetic disease through aberrant splicing. Experimental splicing assays, either RT‐PCR analyses of patient RNA or functional... 
variant classification | patient RNA analysis | Aberrant splicing | minigene assay | mismatch repair genes | Lynch syndrome | GENETICS & HEREDITY | Splicing | MLH1 protein | Laboratories | Genes | MSH2 protein | Ribonucleic acid--RNA | Assaying | Patients | DNA repair | MSH6 protein | Mismatch repair | Genetic testing | Mutation | Aberration | Repair | Deoxyribonucleic acid--DNA | Original
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 07/2012, Volume 33, Issue 7, pp. 1051 - 1055
Journal Article
Journal Article