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Mutation databases

Ultrasound Echo-Intensity Predicts Severe Pancreatic Affection in Cystic Fibrosis Patients

Trond Engjom, Friedemann Erchinger, [ ... ], Georg Dimcevski

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, [ ... ], Ian N. M. Day

Prediction of the Damage-Associated Non-Synonymous Single Nucleotide Polymorphisms in the Human MC1R Gene

Diego Hepp, Gislene Lopes Gonçalves, Thales Renato Ochotorena de Freitas

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, [ ... ], Andreas Gal

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, [ ... ], Tao Wang

High Prevalence of the K65R Mutation in HIV-1 Subtype C Infected Patients Failing Tenofovir-Based First-Line Regimens in South Africa

Lindiwe Skhosana, Kim Steegen, [ ... ], Wendy S. Stevens

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, [ ... ], Véronique David

Glucocerebrosidase Gene Mutations Associated with Parkinson's Disease: A Meta-Analysis in a Chinese population

Jia Chen, Wei Li, [ ... ], Zhi-qiang Xu

Profiling of Exome Mutations Associated with Progression of HBV-Related Hepatocellular Carcinoma

Hyun Goo Woo, Soon Sun Kim, [ ... ], Jae Youn Cheong

Mini Profile of Potential Anticancer Properties of Propofol

Jing Song, Yenji Shen, Jing Zhang, Qingquan Lian

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, [ ... ], Chiea Chuen Khor

TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, [ ... ], Murali Dharan Bashyam

Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, [ ... ], Stuart K. Kim

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