Concepedia

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis,

The American Journal of Human Genetics · 2016 · 70 citations · 25 references

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25

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

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Adaptins

Markus Boehm, Juan S. Bonifacino · Molecular Biology of the Cell · 2001 · 425 citations · Full text

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Mutation in AP-3 δ in the mocha Mouse Links Endosomal Transport to Storage Deficiency in Platelets, Melanosomes, and Synaptic Vesicles

Prameela Kantheti, Xiaoxi Qiao, María E. Díaz et al. · Neuron · 1998 · 399 citations · Full text

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AP‐3: an adaptor‐like protein complex with ubiquitous expression

Esteban C. Dell’Angelica · The EMBO Journal · 1997 · 390 citations · Full text

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