Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.H517Y
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FUS

NM_004960.4:p.H517Y

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.

Haouari S et al.

International Journal of Molecular Sciences, 2023

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.

Grassano M et al.

Neurology. Genetics, 2022

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Pathogenic_heterozygous
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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."