spectrin beta chain, non-erythrocytic 4 isoform X2 [Homo sapiens]

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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum. [Eur J Hum Genet. 2021]
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Buelow M, Süßmuth D, Smith LD, Aryani O, Castiglioni C, Stenzel W, Bertini E, Schuelke M, Knierim E. Eur J Hum Genet. 2021 Jul; 29(7):1121-1128. Epub 2021 Mar 26.
βIII spectrin controls the planarity of Purkinje cell dendrites by modulating perpendicular axon-dendrite interactions. [Development. 2020]
βIII spectrin controls the planarity of Purkinje cell dendrites by modulating perpendicular axon-dendrite interactions.
Fujishima K, Kurisu J, Yamada M, Kengaku M. Development. 2020 Dec 16; 147(24). Epub 2020 Dec 16.
SPTBN4 Disorder. [GeneReviews(®). 1993]
SPTBN4 Disorder.
Ortiz-Gonzalez X, Wierenga K. GeneReviews(®). 1993-2024. 2020 Jul 16

RefSeq genomic sequence
See the genomic reference sequence for the SPTBN4 gene (NG_029905.2).
RefSeq mRNA
See reference mRNA sequence for the SPTBN4 gene (XM_017027050.2).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the SPTBN4 gene.

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Protein