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  1. 1.   Human gammaS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract
  2. Vendra, Venkata Pulla Rao; Ostrowski, Christian; Dyba, Marzena A; Tarasov,Sergey; Hejtmancik, J Fielding
  3. International Journal of Molecular Sciences. 2023, Sep 20; 24(18):
  1. 2.   Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
  2. Gianferante, D Matthew; Rotunno, Melissa; Dean, Michael; Zhou, Weiyin; Hicks, Belynda; Wyatt, Kathleen; Jones, Kristine; Wang, Mingyi; Zhu, Bin; Goldstein, Alisa M; Mirabello, Lisa
  3. Molecular genetics & genomic medicine. 2018, Nov; 6(6): 1168-1180.
  1. 3.   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
  2. Schmidt, L. S.; Nickerson, M. L.; Warren, M. B.; Glenn, G. M.; Toro, J. R.; Merino, M. J.; Turner, M. L.; Choyke, P. L.; Sharma, N.; Peterson, J.; Morrison, P.; Maher, E. R.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. American Journal of Human Genetics. 2005, JUN; 76(6): 1023-1033.
  1. 4.   Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders
  2. Dean, M.
  3. Human Mutation. 2003 22(4): 261-274.
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