Items: 251 - 275 from 899
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Source
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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
Billingsley et al. 2010 F7X3 2x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 24 1 0 1 0 0 0 1 1 Egyptian
Braun et al. 2014 NA 3 BBS1 M 20-39 24 1 1 French
Riazuddin et al. 2010 G8FZ V:5 BBS8 c.IVS1-2A>G/c.IVS1-2A>G splice/splice cLOF/cLOF M 20-39 24 1 0 0 0 0 0 Pakistani
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Hjortshoj et al. 2009 4LAO FO-09 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 0 Faroe Islands
Castro-Sanchez et al. 2015 IZKQ GBB4 (107) BBS12 p.Gly361fs*21/p.Thr380fs*2 cLOF/cLOF M 20-39 24 0 1 1 1 1 0 1 1 Spanish
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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Deveault et al. 2011 UHVP 123 BBS2 p.Lys39Lys (splice)/p.Arg324* cLOF/cLOF M 20-39 23 1 1 1 0 0 0 1 Caucasian
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
Braun et al. 2014 NA 5 BBS1 M 20-39 23 0 1 French
Hjortshoj et al. 2009 Q90P FO-01 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 23 1 1 0 Faroe Islands
Branfield Day et al. 2015 NA 20 BBS6 M 20-39 22,4 1 0 0 Portugese
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Abu Safieh et al. 2010 W01J KFSH-FD001-4 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS M 20-39 22 1 0 0 0 0 0 0 0 Saudi Arabian
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Schaefer et al. 2011(a) V42F AR37-05 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 22 1 1 0 1 1 0 USA
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Deveault et al. 2011 75UO 82 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 M 20-39 22 1 1 1 1 1 1 Denea
Schaefer et al. 2011(a) DRXS I.2.22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 20-39 22 1 1 0 1 1 French
Deveault et al. 2011 ERRX 35 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 22 1 1 1 1 1 1 1 1 Italian
Laurier et al. 2006 00OK B4 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 20-39 22 1 1 1 1 Lebanese