Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.Y570C
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JAK2

NM_004972.4:p.Y570C

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

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Next-generation sequencing redefines the diagnosis of triple-negative myeloproliferative neoplasms.

Wu S et al.

Annals of Hematology, 2022

Gene panel for Mendelian strokes.

Fang F et al.

Stroke and Vascular Neurology, 2020

32341005 (PubMed )
Supplement: svn-2020-000352supp003.pdf

[Whole exome sequencing in a pedigree with ankylosing spondylitis].

Ren WF et al.

Zhongguo Gu Shang = China Journal of Orthopaedics and Traumatology, 2020

Generation of induced pluripotent stem cell line (XDCMHi001-A) from an Ankylosing spondylitis patient with JAK2 mutation.

Hu J et al.

Stem Cell Research, 2020

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

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