Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.S593F
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JAK2

NM_004972.4:p.S593F

Associated Papers

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s008.xlsx › Sheet1

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30377383 (PubMed )
Supplement: 41436_2018_345_MOESM1_ESM.docx

The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivity testing in sarcoma.

Calvert N et al.

Clinical Sarcoma Research, 2018

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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."