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Article

Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms.

Leukemia - 1 Feb 2016

Pietra D, Rumi E, Ferretti V V, Di Buduo C A, Milanesi C, Cavalloni C, Sant'Antonio E, Abbonante V, Moccia F, Casetti I C, Bellini M, Renna M C, Roncoroni E, Fugazza E, Astori C, Boveri E, Rosti V, Barosi G, Balduini A, Cazzola M

Abstract excerpt

A quarter of patients with essential thrombocythemia or primary myelofibrosis carry a driver mutation of CALR, the calreticulin gene. A 52-bp deletion (type 1) and a 5-bp insertion (type 2 mutation) are the most frequent variants. These indels might differentially impair the calcium binding activity of mutant calreticulin. We studied the relationship between mutation subtype and biological/clinical features of...

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Source

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Identifiers

PMID: 26449662
DOI: 10.1038/leu.2015.277
PMCID: PMC4740452

Genes

CALR

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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