polyphosphoinositide phosphatase isoform X1 [Homo sapiens]

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Clinical and genetic features of patients suffering from CMT4J. [J Neurol. 2024]
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S, Morales RJ, Fatehi F, Isapof A, Servais L, Leonard-Louis S, Michaud M, Verdure P, Gidaro T, Pouget J, et al. J Neurol. 2024 Mar; 271(3):1355-1365. Epub 2023 Nov 11.
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. [Mol Genet Metab. 2022]
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
Lenk GM, Meisler MH. Mol Genet Metab. 2022 Dec; 137(4):382-387. Epub 2022 Nov 12.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. [Ann Clin Transl Neurol. 2021]
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, et al. Ann Clin Transl Neurol. 2021 Feb; 8(2):471-476. Epub 2021 Jan 6.

RefSeq genomic sequence
See the genomic reference sequence for the FIG4 gene (NG_007977.1).
RefSeq mRNA
See reference mRNA sequence for the FIG4 gene (XM_011536281.4).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the FIG4 gene.

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