Associated Papers
Alternative splicing of BrTFL2 resulted in early bolting in Chinese cabbage.
Bai Y et al.
Plant Cell Reports, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_2_RNA_studies__n_58_
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL et al.
American Journal of Medical Genetics. Part A, 2022
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR et al.
The Journal of Clinical Investigation, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
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