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Mutation databases

Altered HLA Class I Profile Associated with Type A/D Nucleophosmin Mutation Points to Possible Anti-Nucleophosmin Immune Response in Acute Myeloid Leukemia

Kateřina Kuželová, Barbora Brodská, [ ... ], Petr Cetkovský

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease

Hideaki Sueoka, Junji Ichihara, [ ... ], Hitoshi Sakuraba

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, [ ... ], Sang-Hak Lee

The Characteristic Changes in Hepatitis B Virus X Region for Hepatocellular Carcinoma: A Comprehensive Analysis Based on Global Data

Wenwen Li, Kaku Goto, [ ... ], Naoya Kato

Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

Christian M. Hagen, Frederik H. Aidt, [ ... ], Michael Christiansen

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

Yun Wang, Zhi Wang, [ ... ], Xuyang Liu

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

A Functional Dissection of PTEN N-Terminus: Implications in PTEN Subcellular Targeting and Tumor Suppressor Activity

Anabel Gil, Isabel Rodríguez-Escudero, [ ... ], Rafael Pulido

Phosphorylation of Mutationally Introduced Tyrosine in the Activation Loop of HER2 Confers Gain-of-Function Activity

Zexi Hu, Xiaobo Wan, [ ... ], Liang Chen

Flexible Lab-Tailored Cut-Offs for Suitability of Formalin-Fixed Tumor Samples for Diagnostic Mutational Analyses

Sara Mariani, Cristiana Di Bello, [ ... ], Anna Sapino

Correlation between Activation of PI3K/AKT/mTOR Pathway and Prognosis of Breast Cancer in Chinese Women

Ling Deng, Jie Chen, [ ... ], Hong Zheng

Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions

Fuli Yu, Jian Lu, [ ... ], Eric Boerwinkle

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

Krastyu G. Ugrinov, Stefan D. Freed, Clayton L. Thomas, Shaun W. Lee

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