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Optimization and Validation of Multi-modular Long-range PCR-based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex.


mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome Sequencing

Intronic Splicing sentence examples within intronic splicing enhancer



Systematic characterization of short intronic splicing-regulatory elements


Protocol for proteogenomic dissection of intronic splicing enhancer interactome for prediction of individualized cancer prognosis

Intronic Splicing sentence examples within intronic splicing silencer



High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the Transcriptome


SRSF5 regulates alternative splicing of DMTF1 pre-mRNA through modulating SF1 binding.


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Intronic Splicing sentence examples within intronic splicing mutation



Optimization and Validation of Multi-modular Long-range PCR-based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex.


Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

Intronic Splicing sentence examples within intronic splicing variant



Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.


mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome Sequencing

Intronic Splicing sentence examples within intronic splicing site



Correction of a Urea Cycle Defect after ex vivo Gene Editing of Human Hepatocytes.


Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent.


Quantitative prediction of variant effects on alternative splicing using endogenous pre-messenger RNA structure probing



High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the Transcriptome



Systematic characterization of short intronic splicing-regulatory elements



Correction of a Urea Cycle Defect after ex vivo Gene Editing of Human Hepatocytes.



Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.



Optimization and Validation of Multi-modular Long-range PCR-based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex.



Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia



Protocol for proteogenomic dissection of intronic splicing enhancer interactome for prediction of individualized cancer prognosis



mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome Sequencing



Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia



Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia



SRSF5 regulates alternative splicing of DMTF1 pre-mRNA through modulating SF1 binding.



mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing



Characterization of splice-altering mutations in inherited predisposition to cancer



TCF3 Mutually Exclusive Alternative Splicing Is Controlled by Long Range Cooperative Actions between hnRNPH1 and PTBP1.



CDKN1A-RAB44 transcript fusion and activation in cancers



Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.



Cell Type Diversity in Hepatitis B Virus RNA Splicing and Its Regulation



Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency



Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent.



A novel antisense oligonucleotide anchored on the intronic splicing enhancer of hTERT pre-mRNA inhibits telomerase activity and induces apoptosis in glioma cells


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Intronic Splicing 인트로닉 접합


Intronic Splicing 인트로닉 접합
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