von Willebrand factor A domain-containing protein 3B isoform X3 [Homo - Protein

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A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. [J Neurol Neurosurg Psychiatry....]
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, et al. J Neurol Neurosurg Psychiatry. 2016 Jun; 87(6):656-62. Epub 2015 Jul 8.
Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. [Nucleic Acids Res. 2007]
Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human.
Leparc GG, Mitra RD. Nucleic Acids Res. 2007; 35(10):3192-202. Epub 2007 Apr 22.
Hereditary Ataxia Overview. [GeneReviews(®). 1993]
Hereditary Ataxia Overview.
Perlman S. GeneReviews(®). 1993-2024. 1998 Oct 28 [updated 2024 Sep 12]

RefSeq genomic sequence
See the genomic reference sequence for the VWA3B gene (NG_054753.1).
RefSeq mRNA
See reference mRNA sequence for the VWA3B gene (XM_011510771.3).
RefSeq protein isoforms
See 30 reference sequence protein isoforms for the VWA3B gene.

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Protein