Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.I140I
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TPSD1

NM_012217.3:p.I140I

Associated Papers

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Trivedi NN et al.

The Journal of Allergy and Clinical Immunology, 2009

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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."