Concepedia

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lāce, Justine Rousseau, Norbert Fonya Ajeawung,

The American Journal of Human Genetics · 2019 · 52 citations · 22 references

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UniProt: a hub for protein information

Nucleic Acids Research · 2014 · 5.3K citations · Full text

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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Loss of Skywalker Reveals Synaptic Endosomes as Sorting Stations for Synaptic Vesicle Proteins

Valerie Uytterhoeven, Sabine Kuenen, Jarosław Kasprowicz et al. · Cell · 2011 · 230 citations · Full text

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The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

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CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

Yoram Nevo, Bruria Ben‐Zeev, Adi Tabib et al. · Blood · 2012 · 166 citations

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