Homo sapiens cDNA, FLJ95329, Homo sapiens Cockayne syndrome 1 (classic - Nucleotide

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A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. [Mol Biol Rep. 2024]
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Liu MW, Hu CF, Jin JY, Xiang R, Fan LL, Li YL, Zhu L. Mol Biol Rep. 2024 Feb 27; 51(1):371. Epub 2024 Feb 27.
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality. [Mitochondrion. 2024]
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.
Sabharwal A, Gupta V, Kv S, Kumar Manokaran R, Verma A, Mishra A, Bhoyar RC, Jain A, Sivadas A, Rawat S, et al. Mitochondrion. 2024 Mar; 75:101844. Epub 2024 Jan 17.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates. [Mol Cell Proteomics. 2023]
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates.
Raisch J, Dubois ML, Groleau M, Lévesque D, Burger T, Jurkovic CM, Brailly R, Marbach G, McKenna A, Barrette C, et al. Mol Cell Proteomics. 2023 Oct; 22(10):100644. Epub 2023 Sep 7.

RefSeq alternative splicing
See 4 reference mRNA sequence splice variants for the ERCC8 gene.

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Nucleotide