Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression ; day:3 ; month:5 ; year:2019 ; pages:1-9
European journal of human genetics ; (3.5.2019), 1-9

Classification: Medizin, Gesundheit

Creator: Pérez-Núñez, Iván
Karaky, Mohamad
Fedetz, María
Barrionuevo, Cristina
Izquierdo, Guillermo
Matesanz, Fuencisla
Alcina, Antonio

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41431-019-0414-5

URN: urn:nbn:de:101:1-2019052621591815139259

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

Last update: 14.08.2025, 10:58 AM CEST

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Pérez-Núñez, Iván
Karaky, Mohamad
Fedetz, María
Barrionuevo, Cristina
Izquierdo, Guillermo
Matesanz, Fuencisla
Alcina, Antonio
SpringerLink (Online service)

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CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

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Benchmarking splice variant prediction algorithms using massively parallel splicing assays

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Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

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Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

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Other Objects (12)

An intron 9 containing splice variant of PAX2

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

Promoting or Opposing Social Change : Political Orientations, Moral Convictions and Protest Intentions

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

An intron 9 containing splice variant of PAX2

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

Promoting or Opposing Social Change : Political Orientations, Moral Convictions and Protest Intentions

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

An intron 9 containing splice variant of PAX2

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Analysis of CCR2 splice variant expression patterns and functional properties

Reversible mislocalization of a disease-associated MRE11 splice variant product

SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

Promoting or Opposing Social Change : Political Orientations, Moral Convictions and Protest Intentions

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

The landscape of d16HER2 splice variant expression across HER2-positive cancers

Survivin 2α: a novel Survivin splice variant expressed in human malignancies

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