Results 91 to 100 of about 1,458 (100)

The Distribution of Synonymous Variants in Wenzhounese.

Glottometrics, 2018
Jieqiang Zhu, Haitao Liu
openaire  

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

Genomics, 2019
Mahmoud Elhefnawi, A A Shaalan
exaly  

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders

Human Mutation, 2019
Bernd Wissinger, Daniel Schorderet, Markus Preißing   +2 more
exaly  

Implication of GATA4 synonymous variants in congenital heart disease: A comprehensive in-silico approach

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2019
Ritu Dixit, Bhagyalaxmi Mohapatra
exaly  

Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors

Journal of Biological Chemistry, 2019
David Carey, Janet Robishaw, Diane Smelser   +2 more
exaly  

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants

Human Mutation, 2017
Ping Zhang, Yunlong Liu, Lukas Folkman   +2 more
exaly  

P3.040 Non synonymous GIGYF2 variants in Parkinson's disease

Parkinsonism & Related Disorders, 2009
K.M. Prakash, H.Q. Lim, R. Lee, R. Pavanni, L. Tan, E.K. Tan   +5 more
openaire   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics
Tamar Harel
exaly  

The A209= Synonymous CFTR Variant Conceals Deep Intronic Variant: Disclosing its Phenotypic Spectrum

Archivos de Bronconeumología
Francisco, Martinez Bugallo, Gema, García de la Rosa, Carol, Prieto-Morín, Orlando, Mesa-Medina, Alicia, Callejón-Callejón   +4 more
openaire   +2 more sources

Predicting the Pathogenic Effects of Non-Synonymous Single Nucleotide Variants in Human Diseases

Dinesh Velayutham
exaly