Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.A70D
Back to variants list

NLRP1

NM_033004.4:p.A70D

Associated Papers

Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib.

Vatansever G et al.

Journal of Clinical Immunology, 2025

Clinical Exome Sequencing in Pediatric Patients.

Görükmez O et al.

Cureus, 2025

Genetic variation of promoter sequence modulates XBP1 expression and genetic risk for vitiligo.

Ren Y et al.

Plos Genetics, 2009

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."