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Article

ACTN1 variants associated with thrombocytopenia.

Platelets - 1 Sept 2017

Westbury Sarah K, Shoemark Deborah K, Mumford Andrew D

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28856919
DOI: 10.1080/09537104.2017.1356455

Genes

ACTN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ACTN1 variants associated with thrombocytopenia.PMID 28856919Read ↗

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.Semantic proximity Read ↗

NovelACTN1variants in cases of thrombocytopeniaSemantic proximity Read ↗

Inherited thrombocytopenias: the beat goes on.Semantic proximity Read ↗

GATA1 gene variants associated with thrombocytopenia and anemia.Semantic proximity Read ↗

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.Semantic proximity Read ↗

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.Semantic proximity Read ↗

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With BleedingSemantic proximity Read ↗

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.Semantic proximity Read ↗

Genetics of inherited thrombocytopeniasSemantic proximity Read ↗

Molecular basis of inherited thrombocytopenias: an update.Semantic proximity Read ↗

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.Semantic proximity Read ↗

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)Semantic proximity Read ↗

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