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Mutation databases

A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity

Snigdha Majumder, Rakshit Shah, [ ... ], Arati Khanna-Gupta

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya, Olga Bezlepkina, [ ... ], Anatoly Tiulpakov

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

Sari U. M. Vanninen, Krista Leivo, [ ... ], Juha W. Koskenvuo

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis

Sini Skarp, Olli-Pekka Kämäräinen, [ ... ], Minna Männikkö

Rare gene deletions in genetic generalized and Rolandic epilepsies

Kamel Jabbari, Dheeraj R. Bobbili, [ ... ], Peter Nürnberg

Epidemiological surveillance of HIV-1 transmitted drug resistance among newly diagnosed individuals in Shijiazhuang, northern China, 2014–2015

Xianfeng Wang, Xiaosong Liu, [ ... ], Ning Wang

New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation

Jeungjin Kim, Baihe Chen, [ ... ], Dana W. Aswad

A repetitive mutation and selection system for bacterial evolution to increase the specific affinity to pancreatic cancer cells

Masaki Osawa

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, [ ... ], Laila Bastaki

Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na⁺ channel blocking pharmacotherapy for de novo conduction disease

Jie Liu, Jason D. Bayer, [ ... ], Vijay S. Chauhan

Cancer driver mutation prediction through Bayesian integration of multi-omic data

Zixing Wang, Kwok-Shing Ng, [ ... ], Ken Chen

ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

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