Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.C618F
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JAK2

NM_004972.4:p.C618F

Associated Papers

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

38197452 (PubMed )
Supplement: supplement_1.docx

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14.

Tiong IS et al.

British Journal of Haematology, 2017

A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.

Wu Z et al.

Biomed Research International, 2014

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

Gong JZ et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.

Bench AJ et al.

British Journal of Haematology, 2013

Locked nucleic acid probes for enhanced detection of FLT3 D835/I836, JAK2 V617F and NPM1 mutations.

Warshawsky I et al.

Journal of Clinical Pathology, 2011

Failure of the Ipsogen MutaScreen kit to detect the JAK2 617V>F mutation in samples with additional rare exon 14 mutations: implications for clinical testing and report of a novel 618C>F mutation in addition to 617V>F.

Warshawsky I et al.

Blood, 2010

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