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  1. 1.   Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
  2. Lyons,Erica; Watson,Daniel; Alodadi,Mohammad; Haugabook, Sharie J; Tawa, Gregory J; Hannah-Shmouni, Fady; Porter, Forbes D; Collins, Jack R; Ottinger, Elizabeth A; Mudunuri,Uma
  3. BMC Genomics. 2023, Aug 16; 24(1): 460.
  1. 2.   MC1R variants increase risk of melanomas harboring BRAF mutations
  2. Fargnoli, M. C.; Pike, K.; Pfeiffer, R. M.; Tsang, S.; Rozenblum, E.; Munroe, D. J.; Golubeva, Y.; Calista, D.; Seidenari, S.; Massi, D.; Carli, P.; Bauer, J.; Elder, D. E.; Bastian, B. C.; Peris, K.; Landi, M. T.
  3. Journal of Investigative Dermatology. 2008, Oct; 128(10): 2485-2490.
  1. 3.   CYP1A1 Val(462) and NQO1 Ser(187) polymorphisms, cigarette use, and risk for colorectal adenoma
  2. Hou, L. F.; Chatterjee, N.; Huang, W. Y.; Baccarelli, A.; Yadavalli, S.; Yeager, M.; Bresalier, R. S.; Chanock, S. J.; Caporaso, N. E.; Ji, B. T.; Weissfeld, J. L.; Hayes, R. B.
  3. Carcinogenesis. 2005, JUN; 26(6): 1122-1128.
  1. 4.   Fraction of cases of acquired immunodeficiency syndrome prevented by the interactions of identified restriction gene variants
  2. Silverberg, M. J.; Smith, M. W.; Chmiel, J. S.; Detels, R.; Margolick, J. B.; Rinaldo, C. R.; O'Brien, S. J.; Munoz, A.
  3. American Journal of Epidemiology. 2004 159(3): 232-241.
  1. 5.   Effects of CCR5-Delta 32 and CCR2-64I alleles on disease progression of perinatally HIV-1-infected children: an international meta-analysis
  2. Ioannidis, J. P. A.; Contopoulos-Ioannidis, D. G.; Rosenberg, P. S.; Goedert, J. J.; De Rossi, A.; Espanol, T.; Frenkel, L.; Mayaux, M. J.; Newell, M. L.; Pahwa, S. G.; Rousseau, C.; Scarlatti, G.; Sei, S.; Sen, L.; O'Brien, T. R.
  3. Aids. 2003 17(11): 1631-1638.
  1. 6.   Population survey of CCR5 Delta 32, CCR5 m303, CCR2b 64I, and SDF1 3 ' A allele frequencies in indigenous Chinese healthy individuals, and in HIV-1-infected and HIV-1-uninfected individuals in HIV-1 risk groups
  2. Wang, F. S.; Hong, W. G.; Cao, Y. Z.; Liu, M. X.; Jin, L.; Hu, L. P.; Wang, Z.; Feng, T. J.; Hou, J.; Zhang, B.; Shi, M.; Xu, D. P.; Lei, Z. Y.; Wang, B.; Liu, Z. D.; Ye, J. J.; Peng, L.; Qiu, Y.; Winkler, C.
  3. Jaids-Journal of Acquired Immune Deficiency Syndromes. 2003 32(2): 124-130.
  1. 7.   Rhesus macaque resistance to mucosal simian immunodeficiency virus infection is associated with a postentry block in viral replication
  2. Peng, B.; Voltan, R.; Lim, L.; Edghill-Smith, Y.; Phogat, S.; Dimitrov, D. S.; Arora, K.; Leno, M.; Than, S.; Woodward, R.; Markham, P. D.; Cranage, M.; Robert-Guroff, M.
  3. Journal of Virology. 2002 76(12): 6016-6026.
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