Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Mutation Profiling of Premalignant Colorectal Neoplasia.
Gastroenterology Research And Practice
Karczmarski, Jakub J; Goryca, Krzysztof K; Pachlewski, Jacek J; Dabrowska, Michalina M; Pysniak, Kazimiera K; Paziewska, Agnieszka A; Kulecka, Maria M; Lenarcik, Malgorzata M; Mroz, Andrzej A; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2019
Variant appearance in text: RET: R475Q; rs138624658
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: RET: R475Q; rs138624658
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kashuk, Carl S CS; Stone, Eric A EA; Grice, Elizabeth A EA; Portnoy, Matthew E ME; Green, Eric D ED; Sidow, Arend A; Chakravarti, Aravinda A; McCallion, Andrew S AS