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Mutation databases

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

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, [ ... ], Takeshi Iwata

Combining Structural Modeling with Ensemble Machine Learning to Accurately Predict Protein Fold Stability and Binding Affinity Effects upon Mutation

Niklas Berliner, Joan Teyra, [ ... ], Philip M. Kim

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, [ ... ], Massoud Houshmand

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Ramesh Reddy, Somayyeh Fahiminiya, [ ... ], Rima Slim

Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Tanmoy Sarkar, Rajesh Bansal, Parimal Das

Genomic Characterisation of Small Cell Lung Cancer Patient-Derived Xenografts Generated from Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration Specimens

Tracy L. Leong, Kieren D. Marini, [ ... ], D. Neil Watkins

Unambiguous Detection of Multiple TP53 Gene Mutations in AAN-Associated Urothelial Cancer in Belgium Using Laser Capture Microdissection

Selda Aydin, Anne-France Dekairelle, [ ... ], Jean-Luc Gala

In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

Dario Bonardi, Viola Ravasio, [ ... ], Edoardo Giacopuzzi

Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Quan Li, Xiaoming Liu, [ ... ], Hui-Qi Qu

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Christopher M. Watson, Mohammed El-Asrag, [ ... ], Manir Ali

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