Tubulin beta-2B chain
Definition:
References:
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[1]. Xavier Hubert Jaglin, et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009 Jun;41(6):746-52. [Content Brief]
[2]. Martin W Breuss, et al. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 Jan 15;26(2):258-269. [Content Brief]
[3]. Gustav Y Cederquist, et al. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. [Content Brief]
[4]. Annie Laquerriere, et al. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. Eur J Med Genet. 2016 Apr;59(4):249-56. [Content Brief]
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