pgen.1008841.s007.docx (16.3 kB)
Bioinformatically relevant variants identified through exome sequencing.
journal contribution
posted on 2020-06-16, 17:36 authored by Bernardo Blanco-Sánchez, Aurélie Clément, Sara J. Stednitz, Jennifer Kyle, Judy L. Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B. Phillips, Ellen Macnamara, Yan Huang, David R. Adams, Camilo Toro, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Erika M. Zink, Kent J. Bloodsworth, Kelly G. Stratton, David M. Koeller, Thomas O. Metz, Philip Washbourne, Monte Westerfielda, nomenclature based on GRCh37 (hg19). CADD, Combined Annotation Dependent Depletion (https://cadd.gs.washington.edu/). PolyPhen2 (http://genetics.bwh.harvard.edu/pph2/). SIFT, Sorting Intolerant From Tolerant (https://sift.bii.a-star.edu.sg/). gnomAD, Genome Aggregation Database (https://gnomad.broadinstitute.org/).
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YPEL 3 mutationsperineurial cell developmentadult zebrafish ypel 3 mutantsSchwann cell maturationperineurial glia development HypomyelinationYpel 3Schwann cell differentiation defectsglial cell developmentperineurial glial precursorszebrafish ypel 3 mutantsoligodendrocyte precursor cellsYIPPEEnovel geneCNSCRISPR
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