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VarSite: Disease variants and protein structure.
Laskowski RA, Stephenson JD, Sillitoe I, Orengo CA, Thornton JM. Laskowski RA, et al. Protein Sci. 2020 Jan;29(1):111-119. doi: 10.1002/pro.3746. Epub 2019 Oct 27. Protein Sci. 2020. PMID: 31606900 Free PMC article.
CATH: increased structural coverage of functional space.
Sillitoe I, Bordin N, Dawson N, Waman VP, Ashford P, Scholes HM, Pang CSM, Woodridge L, Rauer C, Sen N, Abbasian M, Le Cornu S, Lam SD, Berka K, Varekova IH, Svobodova R, Lees J, Orengo CA. Sillitoe I, et al. Nucleic Acids Res. 2021 Jan 8;49(D1):D266-D273. doi: 10.1093/nar/gkaa1079. Nucleic Acids Res. 2021. PMID: 33237325 Free PMC article.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.