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Mutation databases

Prognostic value of SRSF2 mutations in patients with de novo myelodysplastic syndromes: A meta-analysis

Xue Zheng, Zhi Zhan, [ ... ], Yuping Gong

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

Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression

A. J. van der Wekken, J. L. Kuiper, [ ... ], H. J. M. Groen

Prominent features of the amino acid mutation landscape in cancer

Zachary A. Szpiech, Nicolas B. Strauli, [ ... ], Ryan D. Hernandez

MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis

Linqing Zhong, Hongmei Song, [ ... ], Mingsheng Ma

DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Xiangyi Liu, Lipeng Yang, [ ... ], Dongsheng Fan

DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, [ ... ], Kamila Réblová

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, [ ... ], Estelle Gandjbakhch

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, [ ... ], Stefano Favale

Evaluation of K-ras and p53 expression in pancreatic adenocarcinoma using the cancer genome atlas

Liming Lu, Jingchun Zeng

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, [ ... ], Shuguo Zheng

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer, Atsushi Ishii, [ ... ], Shinichi Hirose

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