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Article

Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients.

American journal of hematology - 1 Aug 2014

Tefferi Ayalew, Wassie Emnet A, Guglielmelli Paola, Gangat Naseema, Belachew Alem A, Lasho Terra L, Finke Christy, Ketterling Rhett P, Hanson Curtis A, Pardanani Animesh, Wolanskyj Alexandra P, Maffioli Margherita, Casalone Rosario, Pacilli Annalisa, Vannucchi Alessandro M, Passamonti Francesco

Abstract excerpt

CALR (calreticulin) trails JAK2 as the second most mutated gene in essential thrombocythemia (ET). Mutant CALR in ET is a result of frameshift mutations, caused by exon 9 deletions or insertions; type-1, 52-bp deletion (p.L367fs*46), and type-2, 5-bp TTGTC insertion (p.K385fs*47) variants constitute more than 80% of these mutations. The current study includes a total of 1027 patients divided into test (n = 402)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24753125
DOI: 10.1002/ajh.23743

Genes

CALR
JAK2
MPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients.PMID 24753125Read ↗

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