Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.S38S
Back to variants list

NLRP1

NM_033004.4:p.S38S

Associated Papers

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S8_

Identification of a novel genetic locus underlying tremor and dystonia.

Monies D et al.

Human Genomics, 2017

29110692 (PubMed )
Supplement: 40246_2017_123_MOESM2_ESM.pdf

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

Bui T et al.

Ophthalmic Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."