Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy - Concepedia

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

DOI Full Paper Access

119

Citations

26

References

2016

Year

Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne‐Sophie Denommé‐Pichon, Patrizia Amati‐Bonneau, Majida Charif,

The American Journal of Human Genetics

Molecular NeuroscienceMendelian DisorderBiallelic VariantsGenetic DisorderGeneticsGenetic EpidemiologyUba5 RevealNeuroscienceMolecular NeurobiologyDisease Gene IdentificationMedicineSocial SciencesNeurogeneticsUfm1 Cascade

References

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