Varaico: Literature-Extracted Genetic Variants

Gene:KLK8
Variant:p.M13R
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KLK8

NM_007196.4:p.M13R

Associated Papers

Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.

Gombart AF et al.

Blood, 2001

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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."