G-patch domain and KOW motifs-containing protein [Homo sapiens]

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Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. [Eur J Hum Genet. 2017]
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
Carroll R, Kumar R, Shaw M, Slee J, Kalscheuer VM, Corbett MA, Gecz J. Eur J Hum Genet. 2017 Sep; 25(9):1078-1082. Epub 2017 Jun 14.
Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome. [Prenat Diagn. 1988]
Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome.
Hockey A, Crowhurst J, Cullity G. Prenat Diagn. 1988 Nov; 8(9):683-6.
GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. [Biosci Rep. 2014]
GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.
Zang S, Lin TY, Chen X, Gencheva M, Newo AN, Yang L, Rossi D, Hu J, Lin SB, Huang A, et al. Biosci Rep. 2014 Dec 12; 34(6):e00163. Epub 2014 Dec 12.

RefSeq genomic sequence
See the genomic reference sequence for the GPKOW gene (NG_021310.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the GPKOW gene.

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NP_056513 [Domain Mapping of Disease Mut...]
NP_056513
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein