Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.R80W
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MPO

NM_000250.2:p.R80W

Associated Papers

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin.

Hautala NM et al.

Bmj Open Ophthalmology, 2024

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6A.EXONIC_SNV_VALIDATION

RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation.

Kuo MC et al.

Leukemia, 2009

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