ATPase family gene 2 protein homolog B isoform 2 [Homo sapiens]

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. [Am J Hum Genet. 2021]
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, et al. Am J Hum Genet. 2021 Oct 7; 108(10):2006-2016.
Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly. [Cell Rep. 2022]
Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.
Ni C, Schmitz DA, Lee J, Pawłowski K, Wu J, Buszczak M. Cell Rep. 2022 Mar 29; 38(13):110597.
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. [J Hum Genet. 2013]
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
Tin A, Colantuoni E, Boerwinkle E, Kottgen A, Franceschini N, Astor BC, Coresh J, Kao WH. J Hum Genet. 2013 Jul; 58(7):461-6. Epub 2013 Mar 28.

RefSeq protein isoforms
See the other reference sequence protein isoform for the AFG2B gene (NP_076968.2).

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein