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Article

Predicting Severity of Disease-Causing Variants.

Human mutation - 1 Apr 2017

Niroula Abhishek, Vihinen Mauno

Abstract excerpt

Most diseases, including those of genetic origin, express a continuum of severity. Clinical interventions for numerous diseases are based on the severity of the phenotype. Predicting severity due to genetic variants could facilitate diagnosis and choice of therapy. Although computational predictions have been used as evidence for classifying the disease relevance of genetic variants, special tools for predicting...

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PMID: 28070986
DOI: 10.1002/humu.23173

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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