Concepedia

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Éliane Beauregard‐Lacroix, G. Pacheco-Cuellar, Norbert Fonya Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir, Dina Vind-Kezunovic, Susan M. White, Dénes Zádori, Claudia Castiglioni,

Genetics in Medicine · 2020 · 30 citations · 29 references

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References

29

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner et al. · Cell · 2015 · 1.5K citations · Full text

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On the control of germ cell development in Caenorhabditis elegans

Judith Kimble, John G. White · Developmental Biology · 1981 · 604 citations

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Structure of V-ATPase from the mammalian brain

Y.M. Abbas, Di Wu, Stephanie A. Bueler et al. · Science · 2020 · 253 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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