Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.M1184T
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NLRP1

NM_033004.4:p.M1184T

Associated Papers

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Castano-Jaramillo LM et al.

Journal of Genetics, 2023

NLRP1 variant M1184V decreases inflammasome activation in the context of DPP9 inhibition and asthma severity.

Moecking J et al.

The Journal of Allergy and Clinical Immunology, 2021

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Farlow JL et al.

Plos One, 2015

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Levandowski CB et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."