Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.R492W
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NLRC4

NM_001199138.2:p.R492W

Associated Papers

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.

Li AS et al.

American Journal of Ophthalmology, 2021

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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."