A Multiplexed Assay for Exon Recognition Reveals That an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions

Molecular Cell - United States
doi 10.1016/j.molcel.2018.10.037
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Exon Recognition in Vertebrate Splicing

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
1995English

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes
Internal MedicineEndocrinologyMetabolismDiabetes
2020English

S-Cap Extends Pathogenicity Prediction to Genetic Variants That Affect RNA Splicing

Nature Genetics
Genetics
2019English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology
Neurology
2011English

Improved Detection of Rare Genetic Variants for Diseases

PLoS ONE
Multidisciplinary
2010English

406 an in Vitro Splicing Assay Reveals the Pathogenicity of Intronic Variants in ABCC6, the Gene at Fault in Pseudoxanthoma Elasticum

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2019English

The Quest for Rare Variants: Pooled Multiplexed Next Generation Sequencing in Plants

Frontiers in Plant Science
Plant Science
2012English

The Exon a (C77G) Mutation Is a Common Cause of Abnormal CD45 Splicing in Humans

Journal of Immunology
AllergyImmunology
2001English

Multiple Splicing Defects in an Intronic False Exon

Molecular and Cellular Biology
Cell BiologyMolecular Biology
2000English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy