Varaico: Literature-Extracted Genetic Variants

Gene:MUC12
Variant:p.P1555_T1568del14
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MUC12

NM_001164462.2:p.P1555_T1568del14

Associated Papers

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: mmc2.pdf
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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."