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The SPRED1 Variants Repository for Legius Syndrome.
Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R. Sumner K, et al. Among authors: crockett dk. G3 (Bethesda). 2011 Nov;1(6):451-6. doi: 10.1534/g3.111.000687. Epub 2011 Nov 1. G3 (Bethesda). 2011. PMID: 22384355 Free PMC article.
The Alport syndrome COL4A5 variant database.
Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. Crockett DK, et al. Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312. Hum Mutat. 2010. PMID: 20574986
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
International Alport Mutation Consortium; Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. International Alport Mutation Consortium, et al. Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Pediatr Nephrol. 2014. PMID: 23720012 Review.
46 results