Homo sapiens ceroid-lipofuscinosis neuronal 6 late infantile variant i - Nucleotide

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Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. [Epilepsy Res. 2024]
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, Ali Y, Haider S, Efthymiou S, Abdullah U, et al. Epilepsy Res. 2024 Mar; 201:107283. Epub 2023 Dec 17.
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies. [Mol Cell. 2024]
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies.
Chrustowicz J, Sherpa D, Li J, Langlois CR, Papadopoulou EC, Vu DT, Hehl LA, Karayel Ö, Beier V, von Gronau S, et al. Mol Cell. 2024 Jan 18; 84(2):293-308.e14. Epub 2023 Dec 18.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability. [Cell. 2023]
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, et al. Cell. 2023 Oct 26; 186(22):4898-4919.e25. Epub 2023 Oct 11.

RefSeq alternative splicing
See 2 reference mRNA sequence splice variants for the CLN6 gene.

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Nucleotide