Varaico: Literature-Extracted Genetic Variants

Gene:FBXO38
Variant:p.R526Q
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FBXO38

NM_205836.3:p.R526Q

Associated Papers

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation.

Dibus N et al.

Frontiers in Cell and Developmental Biology, 2022

35769260 (PubMed )
Supplement: DataSheet1.docx

FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability.

Dibus N et al.

Frontiers in Cell and Developmental Biology, 2022

The expanding genetic landscape of hereditary motor neuropathies.

Beijer D et al.

Brain : a Journal of Neurology, 2020

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.

Akçimen F et al.

Journal of Human Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."