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Mutation databases

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

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, [ ... ], Guohua Yin

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

Liliana Catherine Patiño, Rajani Battu, [ ... ], Paul Laissue

Development and Customization of a Color-Coded Microbeads-Based Assay for Drug Resistance in HIV-1 Reverse Transcriptase

Lijun Gu, Ai Kawana-Tachikawa, [ ... ], Noriaki Hosoya

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