Homo sapiens alpha- and gamma-adaptin-binding protein p34, mRNA (cDNA - Nucleotide

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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark. [Clin Genet. 2024]
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB. Clin Genet. 2024 May; 105(5):561-566. Epub 2024 Feb 4.
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.
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 7 reference mRNA sequence splice variants for the AAGAB gene.

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Nucleotide