Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.A43T
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NLRP1

NM_033004.4:p.A43T

Associated Papers

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Zhong FL et al.

Cell, 2016

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Soler VJ et al.

Journal of Medical Genetics, 2013

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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."