Article

Mutational Survivorship Bias: The case of PNKP

2020-08-03

Abstract excerpt

The molecular function of a protein relies on its structure. Understanding how mutations alter structure and function in multi-domain proteins, is key to elucidate how a pathological phenotype is generated. However, one may fall into the logical bias of assessing protein damage only based on the mutations that are viable (survivorship bias), which can lead to partial conclusions. This is the case of PNKP, an impor...

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Literature Corpus work: 61892137-1d81-54c5-9826-572fb41fed92
DOI: 10.1101/2020.08.03.233957

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