Article

A deregulated stress response underlies distinct INF2 associated disease profiles

2019-11-12

Abstract excerpt

Monogenic diseases provide favorable opportunities to elucidate the molecular mechanisms of disease progression and improve medical diagnostics. However, the complex interplay between genetic and environmental factors in disease etiologies makes it difficult to discern the mechanistic links between different alleles of a single locus and their associated pathophysiologies. Here we systematically characterize a lar...

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Literature Corpus work: ade8a192-de01-57d1-9019-2ea0b5c2b48c
DOI: 10.1101/838086

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