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Exon mapping

A gene-specific RNA enrichment protocol for nanopore direct-RNA sequencing

Maja Bele Dyrendalsli, Cecilie Løkke, Christer Einvik

Structure and function of Full-length Tau

Laura Vallés-Saiz, Indalo Domene-Serrano, [ ... ], Jesús Avila

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

Cristina Pastorino, Ludovica Menta, [ ... ], Renata Bocciardi

The impact of genetically controlled splicing on exon inclusion and protein structure

Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Thomas J. Sproule, Robert Y. Wilpan, [ ... ], John P. Sundberg

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice

Thomas J. Sproule, Robert Y. Wilpan, [ ... ], John P. Sundberg

Mirage2’s high-quality spliced protein-to-genome mappings produce accurate multiple-sequence alignments of isoforms

Alexander J. Nord, Travis J. Wheeler

Functionally distinct BMP1 isoforms show an opposite pattern of abundance in plasma from non-small cell lung cancer subjects and controls

Margaret K. R. Donovan, Yingxiang Huang, [ ... ], Asim Siddiqui

Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1

Mougina K. Eltahir, Masayuki Nakamori, [ ... ], Seiichi Nagano

A model for isoform-level differential expression analysis using RNA-seq data without pre-specifying isoform structure

Yang Liu, Junying Wang, Song Wu, Jie Yang

Development and evaluation of a custom bait design based on 469 single-copy protein-coding genes for exon capture of isopods (Philosciidae: Haloniscus)

Danielle N. Stringer, Terry Bertozzi, [ ... ], Andrew D. Austin

The Zmat2 gene in non-mammalian vertebrates: Organizational simplicity within a divergent locus in fish

Peter Rotwein

Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients

Masamitsu Nishi, Takashi Kimura, [ ... ], Hiroo Yoshikawa

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