ArticleClinical case reports2024
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- Benchmarking AlphaMissense pathogenicity predictions againstBiochemistry and biophysics reports · 2025Article
- Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.Clinical case reports · 2024Article
- Correlations ofAlzheimer's & dementia (New York, N. Y.)Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease-relevant variants within a polymicrobial pulmonary infection case. Exome sequencing was performed in this patient, and AlphaMissense and Phenolyzer were combined to investigate disease-relevant variants screening from exome sequencing results.
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Registered trials
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