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rs6983267
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cryptic splice site
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Genetic Markers
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Pathway Enrichment
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Curated Studies
Most Correlated Studies
Neuroblastoma SH-SY5Y cells with siRNA-mediated knockdown of HnRNPK
Acute monocytic leukemia THP1 cells with CRISPR-CAS9 mediated HNRNPC and ADAR knockout
Fibroblast expression changes in a Hutchinson-Gilford progeria syndrome patient
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Literature
Most Relevant Literature
Activation of Cryptic Donor Splice Sites Within the UGT1A First-Exon Region Generates Variant Transc…
A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patie…
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 an…
Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease.
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Clinical Trials
Most Relevant Clinical Trials
Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria
The Effectiveness of Kuvan in Amish PKU Patients
Biocollection in MyeloDysplastic Syndrome (P-MDS)
SMN Circular RNAs as Potential Biomarkers for the Therapeutic Response to Nusinersen in Spinal Muscu…
Aberrant Splicings Due to Microsatellite Instability in Colorectal Cancer : Physiopathological and C…
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