ADP-ribosylation factor-like protein 13B isoform X2 [Homo sapiens]

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Novel compound heterozygous variants in ARL13B lead to Joubert syndrome. [J Cell Physiol. 2024]
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
Lin Z, Shen Y, Li Y, Lu C, Zhu Y, He R, Cao Z, Yin Z, Gao H, Guo B, et al. J Cell Physiol. 2024 Apr; 239(4):e31189. Epub 2024 Jan 14.
Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules. [Nat Commun. 2018]
Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules.
He K, Ma X, Xu T, Li Y, Hodge A, Zhang Q, Torline J, Huang Y, Zhao J, Ling K, et al. Nat Commun. 2018 Aug 17; 9(1):3310. Epub 2018 Aug 17.
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. [Eur J Hum Genet. 2017]
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, et al. Eur J Hum Genet. 2017 Dec; 25(12):1324-1334. Epub 2017 Nov 15.

RefSeq mRNA
See reference mRNA sequence for the ARL13B gene (XM_006713532.4).
RefSeq protein isoforms
See 18 reference sequence protein isoforms for the ARL13B gene.

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ADP-ribosylation factor-like protein 13B isoform X1 [Homo sapiens]
ADP-ribosylation factor-like protein 13B isoform X1 [Homo sapiens]
gi|767925993|ref|XP_011510835.1|

Protein
JGI_XZT3644.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT3644 3', mRNA ...
JGI_XZT3644.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT3644 3', mRNA sequence
gi|74277916|gnl|dbEST|31353445|gb|C 40.2|

Nucleotide

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Protein