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Mutation detection

Variables that influence BRAF mutation probability: A next-generation sequencing, non-interventional investigation of BRAFV600 mutation status in melanoma

Maria Rita Gaiser, Alexander Skorokhod, [ ... ], Jürgen Bauer

Simultaneous introgression of three POLLED mutations into a synthetic breed of Chinese cattle

Shi-Yi Chen, Linhai Liu, [ ... ], Wei Wang

Upward trends of acquired drug resistances in Ethiopian HIV-1C isolates: A decade longitudinal study

Andargachew Mulu, Melanie Maier, Uwe Gerd Liebert

High prevalence of HIV-1 transmitted drug-resistance mutations from proviral DNA massively parallel sequencing data of therapy-naïve chronically infected Brazilian blood donors

Rodrigo Pessôa, Sabri S. Sanabani

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, [ ... ], Marcelo Andrés Kauffman

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, [ ... ], Khalid Bajou

Assessment of common somatic mutations of EGFR, KRAS, BRAF, NRAS in pulmonary non-small cell carcinoma using iPLEX^® HS, a new highly sensitive assay for the MassARRAY^® System

Bobbie C. Sutton, Ryan T. Birse, [ ... ], Darryl Irwin

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, [ ... ], Toshifumi Azuma

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, [ ... ], Yihua Zhu

Clinical utility of circulating cell-free DNA in advanced colorectal cancer

Allan A. Lima Pereira, Maria Pia Morelli, [ ... ], Van Morris

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

Aneta Ścieżyńska, Ewelina Ruszkowska, [ ... ], Monika Ołdak

Clinical validation of a highly sensitive assay to detect EGFR mutations in plasma cell-free DNA from patients with advanced lung adenocarcinoma

Yuping Li, Hanyan Xu, [ ... ], Chengshui Chen

Crystal digital droplet PCR for detection and quantification of circulating EGFR sensitizing and resistance mutations in advanced non-small cell lung cancer

Cécile Jovelet, Jordan Madic, [ ... ], Ludovic Lacroix

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