Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.K267_I268Splc
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EPX

NM_000502.6:p.K267_I268Splc

Associated Papers

Identification of EPX Variants in Human Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss).

David C et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10
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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."