Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Mutation databases

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

PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

Miaoxin Li, Philip Wing-Lok Ho, [ ... ], Shu-Leong Ho

Computational Screening and Molecular Dynamic Simulation of Breast Cancer Associated Deleterious Non-Synonymous Single Nucleotide Polymorphisms in TP53 Gene

Kumaraswamy Naidu Chitrala, Suneetha Yeguvapalli

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Petros Kountouris, Carsten W. Lederer, [ ... ], Marina Kleanthous

Advertisement

Create a weekly email alert for: Mutation databases

You can change these options by clicking profile then "Alerts and Notifications"