Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.N679H
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MEFV

NM_000243.3:p.N679H

Associated Papers

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

A familial Mediterranean fever girl due to MEFV N679H mutation with Gilbert's syndrome.

Fujimaki Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages.

Shiba T et al.

The Journal of Allergy and Clinical Immunology, 2019

One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.

Kishida D et al.

Rheumatology International, 2018

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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."