transcription factor Gibbin isoform X1 [Homo sapiens]

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Xia-Gibbs Syndrome. [GeneReviews(®). 1993]
Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D. GeneReviews(®). 1993-2024. 2021 Dec 9
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. [Eur J Med Genet. 2021]
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, et al. Eur J Med Genet. 2021 Sep; 64(9):104280. Epub 2021 Jul 3.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. [Hum Mutat. 2021]
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, et al. Hum Mutat. 2021 May; 42(5):577-591. Epub 2021 Mar 6.

RefSeq genomic sequence
See the genomic reference sequence for the AHDC1 gene (NG_034158.1).
RefSeq mRNA
See reference mRNA sequence for the AHDC1 gene (XM_054336021.1).

protein-associating with the carboxyl-terminal domain of ezrin isoform X3 [Homo ...
protein-associating with the carboxyl-terminal domain of ezrin isoform X3 [Homo sapiens]
gi|767909974|ref|XP_011508104.1|

Protein
601852205F1 NIH_MGC_56 Homo sapiens cDNA clone IMAGE:4076232 5', mRNA sequence
601852205F1 NIH_MGC_56 Homo sapiens cDNA clone IMAGE:4076232 5', mRNA sequence
gi|11981255|gnl|dbEST|7227445|gb|BF 7.1|

Nucleotide

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Protein