Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.V1231I
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NLRP1

NM_033004.4:p.V1231I

Associated Papers

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.

Bernales CQ et al.

Immunogenetics, 2018

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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."