Varaico: Literature-Extracted Genetic Variants

Gene:PTPRC
Variant:p.P110L
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PTPRC

NM_002838.5:p.P110L

Associated Papers

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.

Köllner I et al.

Blood, 2006

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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."