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Mutation databases

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, [ ... ], Maximilian Muenke

Comprehensive Mutation Analysis in Colorectal Flat Adenomas

Quirinus J. M. Voorham, Beatriz Carvalho, [ ... ], Gerrit A. Meijer

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

Mapping the Mutual Information Network of Enzymatic Families in the Protein Structure to Unveil Functional Features

Daniel Aguilar, Baldo Oliva, Cristina Marino Buslje

Image Correlation Method for DNA Sequence Alignment

Millaray Curilem Saldías, Felipe Villarroel Sassarini, [ ... ], Iván Maureira Butler

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, [ ... ], Jayesh Sheth

Leukemia Gene Atlas – A Public Platform for Integrative Exploration of Genome-Wide Molecular Data

Katja Hebestreit, Sören Gröttrup, [ ... ], Martin Dugas

New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, [ ... ], Margarita Sánchez-Beato

KRASness and PIK3CAness in Patients with Advanced Colorectal Cancer: Outcome after Treatment with Early-Phase Trials with Targeted Pathway Inhibitors

Ignacio Garrido-Laguna, David S. Hong, [ ... ], Razelle Kurzrock

Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Julia Zimmer, Sandra C. Doelken, [ ... ], Petra Seemann

Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

Kristoffer Søberg, Anja C. V. Larsen, [ ... ], Bjørn S. Skålhegg

The Naturally Occurring YMDD Mutation among Patients Chronically Infected HBV and Untreated with Lamivudine: A Systematic Review and Meta-Analysis

Youwen Tan, Keqin Ding, [ ... ], Rongbin Yu

Structural Stability of Human Protein Tyrosine Phosphatase ρ Catalytic Domain: Effect of Point Mutations

Alessandra Pasquo, Valerio Consalvi, [ ... ], Roberta Chiaraluce

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