Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.V147L
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ERVFRD-1

NM_207582.3:p.V147L

Associated Papers

Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.

Tokgun PE et al.

Archives of Rheumatology, 2023

PRRT2 mutations are related to febrile seizures in epileptic patients.

He ZW et al.

International Journal of Molecular Sciences, 2014

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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."