Homo sapiens ectopic P-granules 5 autophagy tethering factor (EPG5), R - Nucleotide

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Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. [Eur J Paediatr Neurol. 2022]
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Vansenne F, Fock JM, Stolte-Dijkstra I, Meiners LC, van den Boogaard MH, Jaeger B, Boven L, Vos YJ, Sinke RJ, Verbeek DS. Eur J Paediatr Neurol. 2022 Nov; 41:91-98. Epub 2022 Nov 12.
EPG5-Related Disorder. [GeneReviews(®). 1993]
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H. GeneReviews(®). 1993-2024. 2022 Oct 13
Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5. [Autophagy. 2022]
Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.
Schwertz H, Rowley JW, Portier I, Middleton EA, Tolley ND, Campbell RA, Eustes AS, Chen K, Rondina MT. Autophagy. 2022 Jul; 18(7):1534-1550. Epub 2021 Nov 18.

RefSeq alternative splicing
See 39 reference mRNA sequence splice variants for the EPG5 gene.

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Nucleotide