|
rs61732874
|
|
Familial Mediterranean Fever
|
|
0.820 |
GeneticVariation
|
BEFREE |
Mutations p.M680I, p.M694V, p.M694I, p.K695R, p.V726A, and p.A744S, which are located in the B30.2 domain of pyrin protein, are responsible for manifestation of the most common and severe forms of FMF.
|
29575132 |
2018 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.
|
28590056 |
2017 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Revisiting the morbid genome of Mendelian disorders.
|
27884173 |
2016 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
|
27659338 |
2016 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).
|
26843738 |
2015 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q.
|
25648235 |
2015 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).
|
26843738 |
2015 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.
|
25793047 |
2014 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
|
23716950 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
|
23031807 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
|
23031807 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
|
21246368 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
|
22661645 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
|
20165923 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
|
22019805 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.
|
21598806 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
|
22019805 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum.
|
20008924 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
|
19934083 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
|
20177433 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
|
20177433 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
|
20534143 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
|
19934083 |
2010 |