Items: 726 - 750 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Pereiro et al. 2010 M9QZ M79 II.2 BBS6 p.Gly250Arg/p.Gly250Arg MS/MS 1 1 1 1 Caucasian
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Phelps et al. 2017 MDPS UW013-3 BBS14
[]
 1 0 0 0 European
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
Phelps et al. 2017 MDPS UW013-4 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Phelps et al. 2017 6S11 UW045-3 BBS14 0 0 0 0 European
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Phelps et al. 2017 6S11 UW045-4 BBS14 0 0 1 0 European
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Phelps et al. 2017 HKJC UW220-3 BBS14 1 0 0 0 European
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
Phelps et al. 2017 80NL UW244-3 BBS14 1 0 1 0 European
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Phelps et al. 2017 80NL UW244-4 BBS14 1 0 1 1 European
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Phelps et al. 2017 7J4Q UW259-3 BBS14
[]
 0 0 0 0 European
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA
Phelps et al. 2017 SWCP UW263-3 BBS14 1 0 1 0 European
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Phelps et al. 2017 MI6E UW282-3 BBS14
[]
 1 0 1 0 European
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Harville et al. 2010 WDU9 A2875-II2 BBS7 c.188T>G/c.188T>G p.Ile66Met/p.Ile66Met MS/MS 1 1 1 1 Europe
Phelps et al. 2017 MI6E UW282-4 BBS14
[]
 1 0 0 0 European