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Overview of included studies for PxMD-PRRT2:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(?_-949)_(1242_?)del
c.(?_-949)_(1242_?)del (0.43 Mb)
c.(?_-949)_(1242_?)del (0.53 Mb)
c.(?_-949)_(1242_?)del (0.534 Mb)
c.(?_-949)_(1242_?)del (0.544 Mb)
c.(?_-949)_(1242_?)del (0.6 Mb)
c.(?_-949)_(1242_?)del (0.895 Mb)
c.1011C>T
c.1011_1012+9delCGGTGAGTGGG
c.1020_1021insATAAG
c.1023A>T
c.117delA
c.121_122delGT
c.133_136delCCAG
c.186_187delGC
c.215_216delCA
c.27dupT
c.291delC
c.322delA
c.324dupA
c.369dupG
c.388delG
c.487C>T
c.510dupT
c.514_517delTCTG
c.516dupT
c.529G>T
c.562C>T
c.573dupT
c.579dupA
c.601_604delCACT
c.640G>C
c.644C>G
c.647C>A
c.647C>G
c.649C>T
c.649delC
c.649dupC
c.697_698delAG
c.718C>T
c.741delC
c.776dupG
c.787C>T
c.796C>T
c.797G>A
c.824C>T
c.841T>C
c.859G>A
c.872C>T
c.884G>A
c.904dupG
c.913G>A
c.913G>T
c.917C>A
c.919C>T
c.922C>T
c.931C>T
c.950G>A
c.964delG
c.967G>A
c.972delA
c.980dupT
c.981C>G
c.996_997insGAC
Country
Argentina
Australia
Austria
Belgium
Canada
China
Finland
France
Germany
Greece
India
Indonesia
Iraq
Italy
Japan
Kenya
Malaysia
Malta
Mongolia
Morocco
Netherlands
Pakistan
Philippines
Poland
Singapore
Somalia
South Korea
Spain
Taiwan
Turkey
United Kingdom
United States
Vietnam
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Matsumoto, 2014
Family study
3
A
67%
11(+/-1)
p.Ile327Met
: het
Brueckner, 2014
Family study
1
C
0%
12
p.Arg217Glufs*12
: het
Mao, 2014
Mutational screen
16
n.a.
81%
11(+/-3)
p.Arg217Profs*8
: het
Guo, 2014
Mutational screen
10
n.a.
80%
10(+/-3)
p.Arg217Glufs*12
: het
p.Arg217Profs*8
: het
p.Val109Serfs*25
: het
p.Ile327Met
: het
p.*341Lysext*37
: het
Show more (+2)
Youn, 2014
Other/Mixed
7
A
100%
n.a.
p.Arg217Glufs*12
: het
p.Arg217Profs*8
: het
Djémié, 2014
Mutational screen
6
n.a.
50%
14(+/-2)
p.Arg217Glufs*12
: het
p.Arg217Profs*8
: het
Fusco, 2014
Case report/Case series
2
n.a.
50%
9
p.Arg217Profs*8
: het
Torisu, 2014
Case report/Case series
1
A
100%
6
p.Arg217Profs*8
: het
Tan, 2014
Mutational screen
15
n.a.
n.a.
n.a.
p.Arg217Glufs*12
: het
p.Arg217Profs*8
: het
p.Ser202Hisfs*26
: het
p.Ser233Trpfs*9
: het
p.Arg217*
: het
Show more (+2)
Chen, 2014
Other/Mixed
11
A
n.a.
11(+/-2)
p.Arg217Profs*8
: het
p.Ala214Pro
: het
p.Ile327Met
: het
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