Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.M519fs
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MPO

NM_000250.2:p.M519fs

Associated Papers

Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms.

Kongkiatkamon S et al.

Leukemia, 2022

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

Vergnano M et al.

American Journal of Human Genetics, 2020

32758448 (PubMed )
Supplement: mmc1.pdf

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Select a paper to view details
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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."