Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P115R
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MEFV

NM_000243.3:p.P115R

Associated Papers

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.

Nakamura T et al.

Gastro Hep Advances, 2026

Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.

Kishida D et al.

Immunological Medicine, 2024

The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Zhong L et al.

Pediatric Rheumatology Online Journal, 2020

32398039 (PubMed )
Supplement: 12969_2020_427_MOESM3_ESM.xlsx › Healthy_controls

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Tsuji S et al.

Clinical and Experimental Immunology, 2019

Familial Mediterranean Fever in Chinese Children: A Case Series.

Li J et al.

Frontiers in Pediatrics, 2019

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M et al.

Biochemistry and Biophysics Reports, 2017

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.

Yasumura J et al.

Modern Rheumatology, 2016

MEFV Variants in Patients with PFAPA Syndrome in Japan.

Taniuchi S et al.

The Open Rheumatology Journal, 2013

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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."