Author

Nikolai A. Naryshkin

PTC Therapeutics (United States)ORCID 0000-0001-6709-0758Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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2020-2023 · peak 1/yr

10 top collaborators · 44 mutual co-author links

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2 shared papersGenetics

Amal Dakka

Mutual co-authors in cluster

2 papers

GeneticsThe American Journal of Human GeneticsPeer-reviewedFeb 20, 2023

This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.

15 citations

BioinformaticsbioRxivPreprintFeb 3, 2020

The paper uses deep learning to identify new gene targets for a splicing modulator drug, validating predictions with in vitro assays.

8 citations