Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.Y618*
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NLRP12

NM_144687.4:p.Y618*

Associated Papers

Monogenic inborn errors of immunity in autoimmune disorders.

Venkatachari IV et al.

Immunologic Research, 2023

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.

Nomani H et al.

Frontiers in Immunology, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4A

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

Al-Mayouf SM et al.

Rheumatology International, 2020

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."