Associated Papers
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants
Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.
Wachs AS et al.
Wiley Interdisciplinary Reviews. Rna, 2021
Splicing mutations in human genetic disorders: examples, detection, and confirmation.
Anna A et al.
Journal of Applied Genetics, 2018
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
Khan SG et al.
Human Mutation, 2010
Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.
Wessagowit V et al.
Journal of Dermatological Science, 2005
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