Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.M1L
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CSF2

NM_000758.4:p.M1L

Associated Papers

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV et al.

American Journal of Human Genetics, 2018

30503519 (PubMed )
Supplement: mmc2.pdf

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

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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."