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. 2022 Jun;37(6):1319-1321.
doi: 10.1002/mds.28985. Epub 2022 Mar 14.

A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient

Affiliations

A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient

Jonas Deppe et al. Mov Disord. 2022 Jun.
No abstract available

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References

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    1. Falb RJ, Müller AJ, Klein W, et al. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. J Med Genet 2021. Published Online First: https://doi.org/10.1136/jmedgenet-2021-108064
    1. Wang Z, Wang X, Zou H, et al. The basic characteristics of the pentraxin family and their functions in tumor progression. Front Immunol 2020;11:1757. https://doi.org/10.3389/fimmu.2020.01757
    1. Omeis IA, Hsu YC, Perin MS. Mouse and human neuronal pentraxin 1 (NPTX1): conservation, genomic structure, and chromosomal localization. Genomics 1996;36(3):543-545. https://doi.org/10.1006/geno.1996.0503

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