Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.S56delFs
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FUS

NM_004960.4:p.S56delFs

Associated Papers

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.

Jaouadi H et al.

Clinical Case Reports, 2022

35341025 (PubMed )
Supplement: CCR3-10-e05339-s001.xlsx › Feuil1

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
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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."