PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing ; volume:24 ; number:1 ; day:10 ; month:10 ; year:2023 ; pages:1-14 ; date:12.2023
BMC genomics ; 24, Heft 1 (10.10.2023), 1-14, 12.2023

Creator: Kurosawa, Ryo
Iida, Kei
Ajiro, Masahiko
Awaya, Tomonari
Yamada, Mamiko
Kosaki, Kenjiro
Hagiwara, Masatoshi

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12864-023-09645-2

URN: urn:nbn:de:101:1-2024020809021637886494

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:35 AM CEST

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Associated

Kurosawa, Ryo
Iida, Kei
Ajiro, Masahiko
Awaya, Tomonari
Yamada, Mamiko
Kosaki, Kenjiro
Hagiwara, Masatoshi
SpringerLink (Online service)

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Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences

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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

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An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

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Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences

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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing

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Intronic motif pairs cooperate across exons to promote pre-mRNA splicing

Intronic Non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees

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PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

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Other Objects (12)

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences

Aberrant splicing and drug resistance in AML

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

Intronic motif pairs cooperate across exons to promote pre-mRNA splicing

Intronic Non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences

Aberrant splicing and drug resistance in AML

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

Intronic motif pairs cooperate across exons to promote pre-mRNA splicing

Intronic Non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences

Aberrant splicing and drug resistance in AML

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

Intronic motif pairs cooperate across exons to promote pre-mRNA splicing

Intronic Non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees

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