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Article

New approaches to predict the effect of co-occurring variants on protein characteristics.

American journal of human genetics - 5 Aug 2021

Holcomb David, Hamasaki-Katagiri Nobuko, Laurie Kyle, Katneni Upendra, Kames Jacob, Alexaki Aikaterini, Bar Haim, Kimchi-Sarfaty Chava

Abstract excerpt

Predicting the effect of a mutated gene before the onset of symptoms of genetic diseases would greatly facilitate diagnosis and potentiate early intervention. There have been myriad attempts to predict the effects of single-nucleotide variants. However, the applicability of these efforts does not scale to co-occurring variants. Furthermore, an increasing number of protein therapeutics contain co-occurring...

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Identifiers

PMID: 34256028
DOI: 10.1016/j.ajhg.2021.06.011
PMCID: PMC8387465

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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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