Article

Missense variants reveal functional insights into the human ARID family of gene regulators

2021-11-19

Abstract excerpt

Missense variants are alterations to protein coding sequences that result in amino acid substitutions. They can be deleterious if the amino acid is required for maintaining structure or/and function, but are likely to be tolerated at other sites. Consequently, missense variation within a healthy population can mirror the effects of negative selection on protein structure and function, such that functional sites on...

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Literature Corpus work: 3160a4aa-c5e6-5d43-96a5-a483b6e8d128
DOI: 10.1101/2021.11.17.468850

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