Items: 76 - 100 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 1 BBS10 F 10-19 15,2 1 1 1 NA
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
Branfield Day et al. 2015 NA 18 BBS10 M 10-19 18,2 1 1 0 German
Branfield Day et al. 2015 NA 21 BBS10 M 10-19 19,9 1 1 0 German
Branfield Day et al. 2015 NA 3 BBS16 F 10-19 17,9 1 1 0 Indian
Branfield Day et al. 2015 NA 4 BBS16 F 10-19 14,6 1 1 1 Indian
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Branfield Day et al. 2015 NA 8 BBS4 F 10-19 15,1 1 1 0 French
Branfield Day et al. 2015 NA 10 BBS4 M 10-19 15,6 1 0 0 Iraqi
Branfield Day et al. 2015 NA 11 BBS4 F 10-19 18 1 0 0 Iraqi
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Branfield Day et al. 2015 NA 14 BBS7 F 10-19 18,1 1 1 0 Peruvian
Branfield Day et al. 2015 NA 5 BBS8 F 10-19 14,6 1 0 0 Pakistani
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA
Braun et al. 2014 NA 2 BBS1 M 10-19 17 1 1 French
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French