Publications:

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BBS7: Y671C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Nature Genetics

Davis, Erica E EE; Zhang, Qi Q; Liu, Qin Q; Diplas, Bill H BH; Davey, Lisa M LM; Hartley, Jane J; Stoetzel, Corinne C; Szymanska, Katarzyna K; Ramaswami, Gokul G; Logan, Clare V CV; Muzny, Donna M DM; Young, Alice C AC; Wheeler, David A DA; Cruz, Pedro P; Morgan, Margaret M; Lewis, Lora R LR; Cherukuri, Praveen P; Maskeri, Baishali B; Hansen, Nancy F NF; Mullikin, James C JC; Blakesley, Robert W RW; Bouffard, Gerard G GG; , ; Gyapay, Gabor G; Rieger, Susanne S; Tönshoff, Burkhard B; Kern, Ilse I; Soliman, Neveen A NA; Neuhaus, Thomas J TJ; Swoboda, Kathryn J KJ; Kayserili, Hulya H; Gallagher, Tomas E TE; Lewis, Richard A RA; Bergmann, Carsten C; Otto, Edgar A EA; Saunier, Sophie S; Scambler, Peter J PJ; Beales, Philip L PL; Gleeson, Joseph G JG; Maher, Eamonn R ER; Attié-Bitach, Tania T; Dollfus, Hélène H; Johnson, Colin A CA; Green, Eric D ED; Gibbs, Richard A RA; Hildebrandt, Friedhelm F; Pierce, Eric A EA; Katsanis, Nicholas N

Publication Date: 2011-03

Variant appearance in text: BBS7: Y671C

PubMed Link: 21258341

Variant Present in the following documents:

• Main text
• nihms260639.pdf

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