Associated Papers
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
Lodewijk GA et al.
Molecular Biology and Evolution, 2020
Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
Strunnikova NV et al.
Plos One, 2009
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
Denamur E et al.
Journal of the American Society of Nephrology : Jasn, 1999
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