Concepedia

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

Beata S. Lipska‐Ziętkiewicz, Paraskevas Iatropoulos, Ramona Maranta, Gianluca Caridi, Fatih Özaltın, Ali Anarat, Ayşe Balat, Jutta Gellermann, Agnes Trautmann, Özlem Erdoğan,

Kidney International · 2013 · 94 citations · 33 references

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References

33

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

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A new bioinformatics analysis tools framework at EMBL-EBI

M. Goujon, Hamish McWilliam, Weizhong Li et al. · Nucleic Acids Research · 2010 · 1.9K citations · Full text

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ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

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Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North et al. · Nature Genetics · 2000 · 1.2K citations

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