Paper Details

Paper Title

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Paper Journal Title

bioRxiv

Paper Citation Count

Paper Publication Year

2023

Bio Mention

CMT2A, Charcot-Marie-Tooth 2A, Full, MFN2, MFN2 protein, Mendelian disorders, altered splicing transcripts, autosomal recessive Charcot-Marie-Tooth disease, c, full-length transcripts, full-length isoform cDNA, intron 6, long-read isoform cDNA, mRNA, neuropathy, open reading frames, patient, patient-derived fibroblast cell line, patient-derived fibroblast line, spliced, splicing transcripts, transcript

Mesh Descriptor

Author Name	Affiliation
Andrew B Stergachis	University of Washington School of Medicine
Andrew B Stergachis	University of Washington School of Medicine
Andrew B Stergachis	Brotman Baty Institute for Precision Medicine
Martha Horike-Pyne	University of Washington School of Medicine
Kathleen A Leppig	Kaiser Permanente Washington
Ghayda M Mirzaa	Brotman Baty Institute for Precision Medicine
Ghayda M Mirzaa	University of Washington
Ghayda M Mirzaa	Seattle Children's Research Institute, Center for Integrative Brain Research
Wendy H Raskind	University of Washington School of Medicine
Elisabeth A Rosenthal	University of Washington School of Medicine
Elisabeth A Rosenthal	University of Washington School of Medicine
Stanley F Nelson	Institute for Precision Health, David Geffen School of Medicine, University of California Los Angeles
Stanley F Nelson	Institute for Precision Health, David Geffen School of Medicine, University of California Los Angeles
Michael J Bamshad	Brotman Baty Institute for Precision Medicine
Michael J Bamshad	University of Washington
Michael J Bamshad	Brotman Baty Institute for Precision Medicine
Michael J Bamshad	University of Washington
Gail P Jarvik	University of Washington School of Medicine
Gail P Jarvik	Brotman Baty Institute for Precision Medicine
Gail P Jarvik	University of Washington School of Medicine
Gail P Jarvik	University of Washington School of Medicine
Gail P Jarvik	University of Washington School of Medicine
Gail P Jarvik	Brotman Baty Institute for Precision Medicine
Fuki M Hisama	University of Washington School of Medicine
Fuki M Hisama	Brotman Baty Institute for Precision Medicine

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