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Protein-truncating variants

Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation. PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.

Implication in diseases/disorders & Overview

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Implication in diseases/disorders

Autism spectrum disorder
1 related topics

Overview

Genetic variantsCoding sequence of genesStop-gain mutationFrameshift mutation
4 related topics

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Overview

Implication in diseases/disorders

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Protein-truncating variants

Nodes8
Edges7
Triples3
Avg. degree1.75
Density0.25
Components1

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Protein-truncating variants

Top relations

related to Implication in diseases/disorders · 3
Protein-truncating variants → It, PTVs, Recent

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Important terminology

variants ptvs mutation protein-truncating diseases genetic predicted shorten coding sequence genes ways like stop-gain ptv sometime categorized umbrella term frameshift

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Protein-truncating variantsrelated to Implication in diseases/disordersIt0.60section
Protein-truncating variantsrelated to Implication in diseases/disordersRecent0.60section
Protein-truncating variantsrelated to Implication in diseases/disordersPTVs0.60section

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