Concepedia

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients

Manasi Kulkarni, Gouri Hule, Martin de Boer, Karin van Leeuwen, Priyanka Kambli, Jahnavi Aluri, Maya Gupta, Aparna Dalvi, Snehal Mhatre, Prasad Taur,

Journal of Clinical Immunology · 2018 · 29 citations · 29 references

DOI

Concepts

References

29

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.8K 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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Chronic Granulomatous Disease: Report on a National Registry of 368 Patients

Jerry A. Winkelstein, Mary C. Marino, Richard B. Johnston et al. · Medicine · 2000 · 1.7K citations

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Chronic Granulomatous Disease: The European Experience

J. Merlijn van den Berg, Elsbeth van Koppen, Anders Åhlin et al. · PLoS ONE · 2009 · 684 citations · Full text

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