ADP-ribosylation factor-like protein 13B isoform X1 [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 genomic sequence
See the genomic reference sequence for the ARL13B gene (NG_017076.1).
RefSeq mRNA
See reference mRNA sequence for the ARL13B gene (XM_011512532.3).

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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|767925991|ref|XP_011510834.1|

Protein
Mus musculus CD244 molecule A (Cd244a), transcript variant 4, non-coding RNA
Mus musculus CD244 molecule A (Cd244a), transcript variant 4, non-coding RNA
gi|2562379492|ref|NR_187116.1|

Nucleotide
BioProject Links for Nucleotide (Select 1577580840) (1)
BioProject
brine metagenome
brine metagenome
brine metagenome Targeted loci environmental

BioProject
BioSample links for Nucleotide (Select 1776981320) (1)
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Protein