Concepedia

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo‐Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo Barić, Mahmut Çöker, Aynur Damli-Huber,

Molecular Genetics and Metabolism · 2016 · 12 citations · 16 references

DOI

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References

16

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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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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Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K citations · Full text

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Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

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Predicting the effects of frameshifting indels

Jing Hu, Pauline C. Ng · Genome biology · 2012 · 128 citations · Full text

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