Concepedia

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebıan, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Annette Seibt, Wolfgang Müller‐Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier,

The American Journal of Human Genetics · 2016 · 99 citations · 15 references

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15

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Functional profiling of the Saccharomyces cerevisiae genome

Guri Giaever, Angela Chu, Li Ni et al. · Nature · 2002 · 4.5K citations

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HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

D N Baron, C. E. Dent, Heather A. Harris et al. · The Lancet · 1956 · 414 citations

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 309 citations · Full text

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<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 194 citations

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