Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.C384Y
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JAK2

NM_004972.4:p.C384Y

Associated Papers

Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies.

Makishima H et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2009

250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies.

Dunbar AJ et al.

Cancer Research, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."