Article

Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations

2021-01-04

Abstract excerpt

Identifying whether a given genetic mutation results in a gene product with increased (gain-of-function; GOF) or diminished (loss-of-function; LOF) activity is an important step toward understanding disease mechanisms as they may result in markedly different clinical phenotypes. Here, we generated the first extensive database of all currently known germline GOF and LOF pathogenic mutations by employing natural lan...

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Literature Corpus work: 8298efef-f078-5d2d-aa3a-1763b9f1f43f
DOI: 10.1101/2021.01.01.424981

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