Varaico: Literature-Extracted Genetic Variants

Gene:CD14
Variant:p.R72L
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CD14

NM_000591.4:p.R72L

Associated Papers

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

Teocchi MA et al.

Immunity, Inflammation and Disease, 2015

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

Tani SM et al.

Human Mutation, 2002

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

Chandak GR et al.

Journal of Medical Genetics, 2002

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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."