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Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
J Mol Neurosci. 2007;31(3):273-9. doi: 10.1385/jmn:31:03:273.
J Mol Neurosci. 2007.
PMID: 17726231
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Maréchal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Böck W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfützer R, Löhr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Güldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Férec C.
Witt H, et al. Among authors: rausova e.
Nat Genet. 2006 Jun;38(6):668-73. doi: 10.1038/ng1797. Epub 2006 May 14.
Nat Genet. 2006.
PMID: 16699518
Free PMC article.
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